{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T17:44:01Z","timestamp":1792172641064,"version":"4.4.0"},"reference-count":93,"publisher":"Hindawi Limited","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2314,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2009,5]]},"DOI":"10.1002\/humu.20958","type":"journal-article","created":{"date-parts":[[2009,3,31]],"date-time":"2009-03-31T17:25:30Z","timestamp":1238520330000},"page":"724-733","source":"Crossref","is-referenced-by-count":247,"title":["<i>GJA1<\/i>mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype"],"prefix":"10.1155","volume":"30","author":[{"given":"William A.","family":"Paznekas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Karczeski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sascha","family":"Vermeer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Brian","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Delatycki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faivre","family":"Laurence","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasi A.","family":"Koivisto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Van Maldergem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simeon A.","family":"Boyadjiev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joann N.","family":"Bodurtha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethylin","family":"Wang Jabs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"10.1002\/humu.20958-BIB1","doi-asserted-by":"crossref","first-page":"7994","DOI":"10.1074\/jbc.M506533200","article-title":"Mutation of a conserved threonine in the third transmembrane helix of alpha- and beta-connexins creates a dominant-negative closed gap junction channel","volume":"281","author":"Beahm","year":"2006","journal-title":"J Biol Chem"},{"issue":"Pt 1","key":"10.1002\/humu.20958-BIB2","doi-asserted-by":"crossref","first-page":"2621","DOI":"10.1083\/jcb.105.6.2621","article-title":"Connexin43: a protein from rat heart homologous to a gap junction protein from liver","volume":"105","author":"Beyer","year":"1987","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.20958-BIB3","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1136\/jmg.27.3.169","article-title":"Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?","volume":"27","author":"Brueton","year":"1990","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20958-BIB4","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1136\/hrt.35.2.189","article-title":"Incidence of cardiac malformations at birth and later, and neonatal mortality","volume":"35","author":"Campbell","year":"1973","journal-title":"Br Heart J"},{"key":"10.1002\/humu.20958-BIB5","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1111\/j.1399-0004.2006.00724.x","article-title":"Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population","volume":"70","author":"Casasnovas","year":"2006","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20958-BIB6","doi-asserted-by":"crossref","first-page":"1803","DOI":"10.1167\/iovs.05-0979","article-title":"Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma","volume":"47","author":"Cella","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1002\/humu.20958-BIB7","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1002\/ajmg.1320410423","article-title":"Hallermann-Streiff syndrome: a review","volume":"41","author":"Cohen","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20958-BIB8","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1001\/archopht.122.4.477","article-title":"Causes and prevalence of visual impairment among adults in the United States","volume":"122","author":"Congdon","year":"2004","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.20958-BIB9","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1001\/archopht.122.4.487","article-title":"Prevalence of cataract and pseudophakia\/aphakia among adults in the United States","volume":"122","author":"Congdon","year":"2004","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.20958-BIB10","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.bbamem.2004.11.013","article-title":"Functional consequences of heterogeneous gap junction channel formation and its influence in health and disease","volume":"1711","author":"Cottrell","year":"2005","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.20958-BIB11","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.ejmg.2005.05.003","article-title":"Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)","volume":"48","author":"Debeer","year":"2005","journal-title":"Eur J Med Genet"},{"key":"10.1002\/humu.20958-BIB12","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1080\/13816810701538620","article-title":"A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features","volume":"28","author":"de la Parra","year":"2007","journal-title":"Ophthalmic Genet"},{"key":"10.1002\/humu.20958-BIB13","doi-asserted-by":"crossref","first-page":"36706","DOI":"10.1074\/jbc.M207016200","article-title":"pH-dependent intramolecular binding and structure involving Cx43 cytoplasmic domains","volume":"277","author":"Duffy","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20958-BIB14","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1080\/08998280.2005.11928029","article-title":"Webbed fingers","volume":"18","author":"Flatt","year":"2005","journal-title":"Proc (Bayl Univ Med Cent)"},{"key":"10.1002\/humu.20958-BIB15","doi-asserted-by":"crossref","first-page":"4375","DOI":"10.1242\/dev.02011","article-title":"A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia","volume":"132","author":"Flenniken","year":"2005","journal-title":"Development"},{"key":"10.1002\/humu.20958-BIB16","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1111\/j.1741-4520.2006.00106.x","article-title":"Rates for specific birth defects among offspring of Japanese mothers, Hawaii, 1986\ufffd\ufffd\ufffd2002","volume":"46","author":"Forrester","year":"2006","journal-title":"Congenit Anom (Kyoto)"},{"key":"10.1002\/humu.20958-BIB17","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1001\/archopht.122.4.532","article-title":"Prevalence of open-angle glaucoma among adults in the United States","volume":"122","author":"Friedman","year":"2004","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.20958-BIB18","first-page":"81","article-title":"Oculodentodigital dysplasia. Picture of the month","volume":"128","author":"Gellis","year":"1974","journal-title":"Am J Dis Child"},{"key":"10.1002\/humu.20958-BIB19","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1093\/hmg\/6.1.123","article-title":"Localization of a gene for oculodentodigital syndrome to human chromosome 6q22\ufffd\ufffd\ufffdq24","volume":"6","author":"Gladwin","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20958-BIB20","doi-asserted-by":"crossref","first-page":"31801","DOI":"10.1074\/jbc.M605961200","article-title":"Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma","volume":"281","author":"Gong","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20958-BIB21","doi-asserted-by":"crossref","first-page":"19190","DOI":"10.1074\/jbc.M609653200","article-title":"Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia","volume":"282","author":"Gong","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20958-BIB22","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0022-3476(63)80304-2","article-title":"Oculodentodigital dysplasia","volume":"63","author":"Gorlin","year":"1963","journal-title":"J Pediatr"},{"key":"10.1002\/humu.20958-BIB23","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1172\/JCI119367","article-title":"Slow ventricular conduction in mice heterozygous for a connexin43 null mutation","volume":"99","author":"Guerrero","year":"1997","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.20958-BIB24","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/ajmg.1320410106","article-title":"Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter","volume":"41","author":"Gutmann","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20958-BIB25","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.pbiomolbio.2007.03.011","article-title":"Connexin channel permeability to cytoplasmic molecules","volume":"94","author":"Harris","year":"2007","journal-title":"Prog Biophys Mol Biol"},{"key":"10.1002\/humu.20958-BIB26","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.pbiomolbio.2007.03.010","article-title":"Gap junctional complexes: from partners to functions","volume":"94","author":"Herve","year":"2007","journal-title":"Prog Biophys Mol Biol"},{"key":"10.1002\/humu.20958-BIB27","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1002\/ajmg.a.30925","article-title":"Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia","volume":"139","author":"Honkaniemi","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.20958-BIB28","first-page":"453","article-title":"Oculodentodigital dysplasia. A case report","volume":"54","author":"Itro","year":"2005","journal-title":"Minerva Stomatol"},{"key":"10.1002\/humu.20958-BIB29","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.bbamem.2004.10.001","article-title":"Gap junction- and hemichannel- independent actions of connexins","volume":"1711","author":"Jiang","year":"2005","journal-title":"Biochem Biophys Acta"},{"key":"10.1002\/humu.20958-BIB30","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/s00431-007-0468-1","article-title":"Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature","volume":"167","author":"Joss","year":"2008","journal-title":"Eur J Pediatr"},{"key":"10.1002\/humu.20958-BIB31","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1001\/archopht.1979.01020010436007","article-title":"Oculodentodigital dysplasia. Four new reports and a literature review","volume":"97","author":"Judisch","year":"1979","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.20958-BIB32","first-page":"75","article-title":"Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia","volume":"15","author":"Kellermayer","year":"2005","journal-title":"Eur J Dermatol"},{"key":"10.1002\/humu.20958-BIB33","first-page":"241","article-title":"A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis","volume":"16","author":"Kelly","year":"2006","journal-title":"Eur J Dermatol"},{"key":"10.1002\/humu.20958-BIB34","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/ajmg.a.20614","article-title":"Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair","volume":"127","author":"Kjaer","year":"2004","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.20958-BIB35","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1161\/01.RES.0000169271.33675.05","article-title":"Functional properties of mouse connexin30.2 expressed in the conduction system of the heart","volume":"96","author":"Kreuzberg","year":"2005","journal-title":"Circ Res"},{"issue":"Pt 3","key":"10.1002\/humu.20958-BIB36","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1242\/jcs.02770","article-title":"Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells","volume":"119","author":"Lai","year":"2006","journal-title":"J Cell Sci"},{"issue":"Pt 1","key":"10.1002\/humu.20958-BIB37","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1242\/jcs.97.1.109","article-title":"Biochemical and immunochemical analysis of the arrangement of connexin43 in rat heart gap junction membranes","volume":"97","author":"Laird","year":"1990","journal-title":"J Cell Sci"},{"key":"10.1002\/humu.20958-BIB38","doi-asserted-by":"crossref","first-page":"30171","DOI":"10.1074\/jbc.M703623200","article-title":"Connexin levels regulate keratinocyte differentiation in the epidermis","volume":"282","author":"Langlois","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20958-BIB39","doi-asserted-by":"crossref","first-page":"9989","DOI":"10.1073\/pnas.171305298","article-title":"Endothelial cell-specific knockout of connexin 43 causes hypotension and bradycardia in mice","volume":"98","author":"Liao","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20958-BIB40","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1007\/s004150200068","article-title":"Neurological manifestations of the oculodentodigital dysplasia syndrome","volume":"249","author":"Loddenkemper","year":"2002","journal-title":"J Neurol"},{"key":"10.1002\/humu.20958-BIB41","doi-asserted-by":"crossref","first-page":"4597","DOI":"10.1091\/mbc.e04-04-0324","article-title":"Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43","volume":"15","author":"Maass","year":"2004","journal-title":"Mol Biol Cell"},{"key":"10.1002\/humu.20958-BIB42","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1161\/CIRCRESAHA.107.162818","article-title":"C-terminal truncation of connexin43 changes number, size, and localization of cardiac gap junction plaques","volume":"101","author":"Maass","year":"2007","journal-title":"Circ Res"},{"key":"10.1002\/humu.20958-BIB43","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1080\/15419060500514143","article-title":"Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants","volume":"12","author":"McLachlan","year":"2005","journal-title":"Cell Commun Adhes"},{"key":"10.1002\/humu.20958-BIB44","first-page":"18","article-title":"[The microphthalmos syndrome.]","volume":"131","author":"Meyer-Schwickerath","year":"1957","journal-title":"Klin Monatsblatter Augenheilkd Augenarztl Fortbild"},{"key":"10.1002\/humu.20958-BIB45","doi-asserted-by":"crossref","unstructured":"Musa FU, Ratajczak P, Sahu J, Pentlicky S, Fryer A, Richard G, Willoughby CE. 2008. Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). Eye (E-pub ahead of print).","DOI":"10.1038\/eye.2008.77"},{"issue":"Pt 22","key":"10.1002\/humu.20958-BIB46","doi-asserted-by":"crossref","first-page":"4479","DOI":"10.1242\/jcs.00821","article-title":"Gap junctions\ufffd\ufffd\ufffdfrom cell to molecule","volume":"116","author":"Nicholson","year":"2003","journal-title":"J Cell Sci"},{"key":"10.1002\/humu.20958-BIB47","first-page":"171","article-title":"Oculo-dental-digital dysplasia: report of a case with spastic paraplegia]","volume":"29","author":"Nivelon-Chevallier","year":"1981","journal-title":"J Genet Hum"},{"key":"10.1002\/humu.20958-BIB48","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1002\/ajmg.1320570320","article-title":"Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family","volume":"57","author":"Norton","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20958-BIB49","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1002\/(SICI)1097-0215(19981109)78:4<446::AID-IJC10>3.0.CO;2-4","article-title":"Mutated connexin43 proteins inhibit rat glioma cell growth suppression mediated by wild-type connexin43 in a dominant-negative manner","volume":"78","author":"Omori","year":"1998","journal-title":"Int J Cancer"},{"key":"10.1002\/humu.20958-BIB50","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1600-0404.1980.tb02993.x","article-title":"Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia","volume":"61","author":"Opjordsmoen","year":"1980","journal-title":"Acta Neurol Scand"},{"key":"10.1002\/humu.20958-BIB51","first-page":"226","volume-title":"The clinical delineation of birth defects, Part II malformation syndromes","author":"O'Rourk","year":"1969"},{"key":"10.1002\/humu.20958-BIB52","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1086\/346090","article-title":"Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia","volume":"72","author":"Paznekas","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20958-BIB53","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1002\/humu.9220","article-title":"A homozygous GJA1 gene mutation causes a Hallermann-Streiff\/ODDD spectrum phenotype","volume":"23","author":"Pizzuti","year":"2004","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20958-BIB54","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1006\/abbi.2000.1989","article-title":"Structure of the amino terminus of a gap junction protein","volume":"381","author":"Purnick","year":"2000","journal-title":"Arch Biochem Biophys"},{"key":"10.1002\/humu.20958-BIB55","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1126\/science.7892609","article-title":"Cardiac malformation in neonatal mice lacking connexin43","volume":"267","author":"Reaume","year":"1995","journal-title":"Science"},{"key":"10.1002\/humu.20958-BIB56","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1136\/jmg.2003.012005","article-title":"Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome\/type III syndactyly","volume":"41","author":"Richardson","year":"2004","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20958-BIB57","doi-asserted-by":"crossref","first-page":"e37","DOI":"10.1136\/jmg.2005.037655","article-title":"A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome","volume":"43","author":"Richardson","year":"2006","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20958-BIB58","doi-asserted-by":"crossref","first-page":"11458","DOI":"10.1074\/jbc.M409564200","article-title":"Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43","volume":"280","author":"Roscoe","year":"2005","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20958-BIB59","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1152\/physrev.00007.2003","article-title":"Plasma membrane channels formed by connexins: their regulation and functions","volume":"83","author":"Saez","year":"2003","journal-title":"Physiol Rev"},{"key":"10.1002\/humu.20958-BIB60","first-page":"271","article-title":"Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum","volume":"4","author":"Schrander-Stumpel","year":"1993","journal-title":"Genet Couns"},{"key":"10.1002\/humu.20958-BIB61","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.hrthm.2004.03.066","article-title":"Loss of electrical communication, but not plaque formation, after mutations in the cytoplasmic loop of connexin43","volume":"1","author":"Seki","year":"2004","journal-title":"Heart Rhythm"},{"key":"10.1002\/humu.20958-BIB62","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1093\/cvr\/cvn133","article-title":"Remodeling of gap junctions and connexin expression in diseased myocardium","volume":"80","author":"Severs","year":"2008","journal-title":"Cardiovasc Res"},{"key":"10.1002\/humu.20958-BIB63","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<36::AID-AJMG7>3.0.CO;2-O","article-title":"Evidence for genetic anticipation in the oculodentodigital syndrome","volume":"71","author":"Shapiro","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20958-BIB64","doi-asserted-by":"crossref","first-page":"e83","DOI":"10.1161\/01.RES.0000168369.79972.d2","article-title":"Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia","volume":"96","author":"Shibayama","year":"2005","journal-title":"Circ Res"},{"key":"10.1002\/humu.20958-BIB65","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1136\/bmj.39458.563611.AE","article-title":"Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives","volume":"336","author":"Sivertsen","year":"2008","journal-title":"BMJ"},{"key":"10.1002\/humu.20958-BIB66","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/s00232-007-9035-y","article-title":"Key connexin 43 phosphorylation events regulate the gap junction life cycle","volume":"217","author":"Solan","year":"2007","journal-title":"J Membr Biol"},{"key":"10.1002\/humu.20958-BIB67","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1002\/ajmg.1320410428","article-title":"Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?","volume":"41","author":"Spaepen","year":"1991","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.20958-BIB68","first-page":"20","article-title":"Oculodentodigital dysplasia with cerebral white matter abnormalities: an additional case","volume":"17","author":"Stanislaw","year":"1998","journal-title":"Proc Greenwood Genet Center"},{"key":"10.1002\/humu.20958-BIB69","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.ceb.2004.07.014","article-title":"Connexins: functions without junctions","volume":"16","author":"Stout","year":"2004","journal-title":"Curr Opin Cell Biol"},{"key":"10.1002\/humu.20958-BIB70","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/01202412-199801000-00003","article-title":"The different appearance of the oculodentodigital dysplasia syndrome","volume":"7","author":"Thomsen","year":"1998","journal-title":"J Pediatr Orthop B"},{"key":"10.1002\/humu.20958-BIB71","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S0002-9394(14)74556-8","article-title":"Glaucoma in oculo-dento-osseous dysplasia","volume":"109","author":"Traboulsi","year":"1990","journal-title":"Am J Ophthalmol"},{"key":"10.1002\/humu.20958-BIB72","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s00427-004-0403-7","article-title":"Connexin43 orthologues in vertebrates: phylogeny from fish to man","volume":"214","author":"van der Heyden","year":"2004","journal-title":"Dev Genes Evol"},{"key":"10.1002\/humu.20958-BIB73","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1016\/j.ijom.2007.03.004","article-title":"Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the Connexin 43 gene","volume":"36","author":"van Es","year":"2007","journal-title":"Int J Oral Maxillofac Surg"},{"key":"10.1002\/humu.20958-BIB74","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/ajmg.a.30412","article-title":"A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma","volume":"132","author":"van Steensel","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.20958-BIB75","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.1001\/archopht.123.10.1422","article-title":"A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia","volume":"123","author":"Vasconcellos","year":"2005","journal-title":"Arch Ophthalmol"},{"key":"10.1002\/humu.20958-BIB76","doi-asserted-by":"crossref","first-page":"1915","DOI":"10.1016\/S0006-3495(94)80985-3","article-title":"Connexin37 forms high conductance gap junction channels with subconductance state activity and selective dye and ionic permeabilities","volume":"66","author":"Veenstra","year":"1994","journal-title":"Biophys J"},{"key":"10.1002\/humu.20958-BIB77","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1161\/01.RES.77.6.1156","article-title":"Selectivity of connexin-specific gap junctions does not correlate with channel conductance","volume":"77","author":"Veenstra","year":"1995","journal-title":"Circ Res"},{"key":"10.1002\/humu.20958-BIB78","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S1569-2558(00)30005-4","volume-title":"Gap junctions. Advances in molecular and cell biology","volume":"30","author":"Verselis","year":"2000"},{"key":"10.1002\/humu.20958-BIB79","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1136\/jmg.31.9.721","article-title":"Autosomal dominant simple microphthalmos","volume":"31","author":"Vingolo","year":"1994","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20958-BIB80","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ajmg.a.30554","article-title":"A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly","volume":"133","author":"Vitiello","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.20958-BIB81","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1002\/ajmg.a.31558","article-title":"Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43","volume":"143","author":"Vreeburg","year":"2007","journal-title":"Am J Med Genet A"},{"issue":"Pt 3","key":"10.1002\/humu.20958-BIB82","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1113\/jphysiol.1995.sp021003","article-title":"Specific motifs in the external loops of connexin proteins can determine gap junction formation between chick heart myocytes","volume":"488","author":"Warner","year":"1995","journal-title":"J Physiol"},{"key":"10.1002\/humu.20958-BIB83","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1146\/annurev.cellbio.19.111301.144309","article-title":"Connexins and cell signaling in development and disease","volume":"20","author":"Wei","year":"2004","journal-title":"Annu Rev Cell Dev Biol"},{"key":"10.1002\/humu.20958-BIB84","first-page":"323","article-title":"A family with oculodentodigital dysplasia","volume":"12","author":"Weintraub","year":"1975","journal-title":"Cleft Palate J"},{"key":"10.1002\/humu.20958-BIB85","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1111\/j.1399-0004.2006.00631.x","article-title":"Clinical and genetic variability of oculodentodigital dysplasia","volume":"70","author":"Wiest","year":"2006","journal-title":"Clin Genet"},{"key":"10.1002\/humu.20958-BIB86","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1515\/BC.2002.076","article-title":"Structural and functional diversity of connexin genes in the mouse and human genome","volume":"383","author":"Willecke","year":"2002","journal-title":"Biol Chem"},{"key":"10.1002\/humu.20958-BIB87","first-page":"379","article-title":"Oculodentodigital dysplasia","volume":"74","author":"Wooldridge","year":"1977","journal-title":"Mo Med"},{"key":"10.1002\/humu.20958-BIB88","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1161\/01.RES.82.3.360","article-title":"Heart defects in connexin43-deficient mice","volume":"82","author":"Ya","year":"1998","journal-title":"Circ Res"},{"key":"10.1002\/humu.20958-BIB89","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1083\/jcb.108.6.2241","article-title":"The 43-kD polypeptide of heart gap junctions: immunolocalization, topology, and functional domains","volume":"108","author":"Yancey","year":"1989","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.20958-BIB90","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/0022-2836(92)90253-G","article-title":"Membrane topology and quaternary structure of cardiac gap junction ion channels","volume":"223","author":"Yeager","year":"1992","journal-title":"J Mol Biol"},{"key":"10.1002\/humu.20958-BIB91","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1006\/jsbi.1998.3972","article-title":"Structure of cardiac gap junction intercellular channels","volume":"121","author":"Yeager","year":"1998","journal-title":"J Struct Biol"},{"key":"10.1002\/humu.20958-BIB92","doi-asserted-by":"crossref","first-page":"35005","DOI":"10.1074\/jbc.M707728200","article-title":"Identification of the calmodulin binding domain of connexin 43","volume":"282","author":"Zhou","year":"2007","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20958-BIB93","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/sj.eye.6700138","article-title":"A study of heredity as a risk factor in strabismus","volume":"16","author":"Ziakas","year":"2002","journal-title":"Eye"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20958","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20958","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:52:43Z","timestamp":1672332763000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20958"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5]]},"references-count":93,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,5]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20958","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5]]}}}