{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T12:30:28Z","timestamp":1792672228679,"version":"4.5.0"},"reference-count":125,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2008,12,1]],"date-time":"2008-12-01T00:00:00Z","timestamp":1228089600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:p>The hypohidrotic ectodermal dysplasias (HED) belong to a large and heterogenous nosological group of polymalfomative syndromes characterized by dystrophy or agenesis of ectodermal derivatives. Molecular etiologies of HED consist of mutations of the genes involved in the Ectodysplasin (EDA)-NF-\u03baB pathway. Besides the classic ectodermal signs, craniofacial and bone manifestations are associated with the phenotypic spectrum of HED. The dental phenotype of HED consists of various degrees of oligodontia with other dental abnormalities, and these are important in the early diagnosis and identification of persons with HED. Phenotypic dental markers of heterozygous females for EDA gene mutation\u2014moderate oligodontia, conical incisors, and delayed dental eruption\u2014are important for individuals giving reliable genetic counseling. Some dental ageneses observed in HED are also encountered in non-syndromic oligodontia. These clinical similarities may reflect possible interactions between homeobox genes implicated in early steps of odontogenesis and the Ectodysplasin (EDA)-NF-\u03baB pathway. Craniofacial dysmorphologies and bone structural anomalies are also associated with the phenotypic spectrum of persons with HED patients. The corresponding molecular mechanisms involve altered interactions between the EDA-NF-\u03baB pathway and signaling molecules essential in skeletogenic neural crest cell differentiation, migration, and osteoclastic differentiation. Regarding oral treatment of persons with HED, implant-supported prostheses are used with a relatively high implant survival rate. Recently, groundbreaking experimental approaches with recombinant EDA or transgenesis of EDA-A1 were developed from the perspective of systemic treatment and appear very promising. All these clinical observations and molecular data allow for the specification of the craniofacial phenotypic spectrum in HED and provide a better understanding of the mechanisms involved in the pathogenesis of this syndrome.<\/jats:p>","DOI":"10.1177\/154405910808701205","type":"journal-article","created":{"date-parts":[[2009,1,8]],"date-time":"2009-01-08T19:39:42Z","timestamp":1231443582000},"page":"1089-1099","source":"Crossref","is-referenced-by-count":84,"title":["Dento-Craniofacial Phenotypes and underlying Molecular Mechanisms in Hypohidrotic Ectodermal Dysplasia (HED): a Review"],"prefix":"10.1177","volume":"87","author":[{"given":"F.","family":"Clauss","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry, Dental Faculty, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, 1, place de l\u2019H\u00f4pital, F-67000 Strasbourg, France;"},{"name":"Department of Dermatology, National French Reference Center for Genodermatosis, Necker-Enfants Malades Hospital, AP-HP, University Descartes-Paris V, France;"},{"name":"Department of Medical Genetics, University Hospital, Strasbourg, France; and"},{"name":"INSERM UMR 595, Dental Faculty, Louis Pasteur University, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.-C.","family":"Mani\u00e8re","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Dental Faculty, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, 1, place de l\u2019H\u00f4pital, F-67000 Strasbourg, France;"},{"name":"Department of Dermatology, National French Reference Center for Genodermatosis, Necker-Enfants Malades Hospital, AP-HP, University Descartes-Paris V, France;"},{"name":"Department of Medical Genetics, University Hospital, Strasbourg, France; and"},{"name":"INSERM UMR 595, Dental Faculty, Louis Pasteur University, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Obry","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Dental Faculty, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, 1, place de l\u2019H\u00f4pital, F-67000 Strasbourg, France;"},{"name":"Department of Dermatology, National French Reference Center for Genodermatosis, Necker-Enfants Malades Hospital, AP-HP, University Descartes-Paris V, France;"},{"name":"Department of Medical Genetics, University Hospital, Strasbourg, France; and"},{"name":"INSERM UMR 595, Dental Faculty, Louis Pasteur University, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Waltmann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Dental Faculty, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, 1, place de l\u2019H\u00f4pital, F-67000 Strasbourg, France;"},{"name":"Department of Dermatology, National French Reference Center for Genodermatosis, Necker-Enfants Malades Hospital, AP-HP, University Descartes-Paris V, France;"},{"name":"Department of Medical Genetics, University Hospital, Strasbourg, France; and"},{"name":"INSERM UMR 595, Dental Faculty, Louis Pasteur University, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Hadj-Rabia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Dental Faculty, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, 1, place de l\u2019H\u00f4pital, F-67000 Strasbourg, France;"},{"name":"Department of Dermatology, National French Reference Center for Genodermatosis, Necker-Enfants Malades Hospital, AP-HP, University Descartes-Paris V, France;"},{"name":"Department of Medical Genetics, University Hospital, Strasbourg, France; and"},{"name":"INSERM UMR 595, Dental Faculty, Louis Pasteur University, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Bodemer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Dental Faculty, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, 1, place de l\u2019H\u00f4pital, F-67000 Strasbourg, France;"},{"name":"Department of Dermatology, National French Reference Center for Genodermatosis, Necker-Enfants Malades Hospital, AP-HP, University Descartes-Paris V, France;"},{"name":"Department of Medical Genetics, University Hospital, Strasbourg, France; and"},{"name":"INSERM UMR 595, Dental Faculty, Louis Pasteur University, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Alembik","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Dental Faculty, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, 1, place de l\u2019H\u00f4pital, F-67000 Strasbourg, France;"},{"name":"Department of Dermatology, National French Reference Center for Genodermatosis, Necker-Enfants Malades Hospital, AP-HP, University Descartes-Paris V, France;"},{"name":"Department of Medical Genetics, University Hospital, Strasbourg, France; and"},{"name":"INSERM UMR 595, Dental Faculty, Louis Pasteur University, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Lesot","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Dental Faculty, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, 1, place de l\u2019H\u00f4pital, F-67000 Strasbourg, France;"},{"name":"Department of Dermatology, National French Reference Center for Genodermatosis, Necker-Enfants Malades Hospital, AP-HP, University Descartes-Paris V, France;"},{"name":"Department of Medical Genetics, University Hospital, Strasbourg, France; and"},{"name":"INSERM UMR 595, Dental Faculty, Louis Pasteur University, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Schmittbuhl","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Dental Faculty, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, 1, place de l\u2019H\u00f4pital, F-67000 Strasbourg, France;"},{"name":"Department of Dermatology, National French Reference Center for Genodermatosis, Necker-Enfants Malades Hospital, AP-HP, University Descartes-Paris V, France;"},{"name":"Department of Medical Genetics, University Hospital, Strasbourg, France; and"},{"name":"INSERM UMR 595, Dental Faculty, Louis Pasteur University, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2008,12,1]]},"reference":[{"key":"ACIKGOZ-ETAL-2007","unstructured":"Acikgoz A, Kademoglu O, Elekdag-T\u00fcrk S, Karagoz F -2007- Hypohidrotic ectodermal dysplasia with true anodontia of the primary dentition. Quintessence Int 38:853\u2013858."},{"key":"ALCAN-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2842.2005.01566.x"},{"key":"ARADHYA-AND-NELSON-2001","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00194-5"},{"key":"ARSLAN-ETAL-2007","doi-asserted-by":"publisher","DOI":"10.1259\/dmfr\/28789331"},{"key":"ARTE-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1177\/00220345010800051201"},{"key":"ASAGIRI-AND-TAKAYANAGI-2007","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2006.09.023"},{"key":"ASHIQUE-ETAL-2002","unstructured":"Ashique AM, Fu K, Richman J -2002- Signalling via type IA and type IB bone morphogenetic protein receptors -BMPR- regulates intramembranous bone formation, chondrogenesis and feather formation in the chicken embryo. Int J Dev Biol 46:243\u2013253."},{"key":"ASWEGAN-ETAL-1997","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971112)72:4<462::AID-AJMG17>3.0.CO;2-P"},{"key":"BAL-ETAL-2007","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20500"},{"key":"BARBERIA-ETAL-2006","unstructured":"Barberia E, Saavedra D, Arenas M, Maroto M -2006- Multiple agenesis and anhidrotic ectodermal dysplasia: a comparative longitudinal study of dental similarities and genetic differences in two groups of children. Eur J Paediatr Dent 7:113\u2013121."},{"key":"BARLOW-ETAL-1999","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199904)214:4<291::AID-AJA2>3.0.CO;2-E"},{"key":"BASCH-AND-BRONNER-FRASER-2006","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-46954-6_2"},{"key":"BECKTOR-ETAL-2001","unstructured":"Becktor KB, Becktor JP, Keller EE -2001- Growth analysis of a patient with ectodermal dysplasia treated with endosseous implants: a case report. Int J Oral Maxillofac Implants 16: 864\u2013874."},{"key":"BEI-AND-MAAS-1998","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.21.4325"},{"key":"BEI-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.21.4711"},{"key":"BELIAKOV-ETAL-1998","unstructured":"Beliakov A, Elizarova VM, Smirnova TA, Krotov V -1998- Primary anodontia in X-linked hypohidrotic ectodermal dysplasia. Stomatologia 77:29\u201331."},{"key":"BOJ-ETAL-1993","unstructured":"Boj JR, Duran J, Cortada M, Jimenez A, Golobart J -1993- Cephalometric changes in a patient with ectodermal dysplasia after placement of dentures. J Clin Pediatr Dent 17:217\u2013220."},{"key":"BONDARETS-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0544.2002.01159.x"},{"key":"BUSHDID-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0356"},{"key":"CAMBIAGHI-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.136.2.217"},{"key":"CASAL-ETAL-2007","doi-asserted-by":"publisher","DOI":"10.1086\/521988"},{"key":"CASCALLANA-ETAL-2005","doi-asserted-by":"publisher","DOI":"10.1210\/en.2004-1246"},{"key":"CHAISSON-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M406392200"},{"key":"CHASSAING-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20295"},{"key":"COURTNEY-ETAL-2005","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2004.11.019"},{"key":"COURTOIS-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1016\/S1471-4914(01)02154-2"},{"key":"CRAWFORD-ETAL-1991","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.3.181"},{"key":"CRUMP-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01444"},{"key":"CUI-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.15.1763"},{"key":"DELLAVIA-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.2319\/111105-395"},{"key":"DUPUIS-GIROD-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.6.e97"},{"key":"FERGUSON-ETAL-1998","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.2.112"},{"key":"FERRARIO-ETAL-2004","doi-asserted-by":"crossref","unstructured":"Ferrario V, Dellavia C, Serrao G, Sforza C -2004- Soft-tissue facial areas and volumes in individuals with ectodermal dysplasia. Am J Med Genet A 126:253\u2013260.","DOI":"10.1002\/ajmg.a.20590"},{"key":"FRANCHI-ETAL-1998","unstructured":"Franchi L, Branchi R, Tollaro I -1998- Craniofacial changes following early prosthetic treatment in a case of hypohidrotic ectodermal dysplasia with complete anodontia. ASDC J Dent Child 65:116\u2013121."},{"key":"FRANZOSO-ETAL-1997","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.24.3482"},{"key":"FU-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M208494200"},{"key":"GAIDE-AND-SCHNEIDER-2003","doi-asserted-by":"publisher","DOI":"10.1038\/nm861"},{"key":"GALIBERT-ETAL-1998","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.51.34120"},{"key":"GLAVINA-ETAL-2001","unstructured":"Glavina D, Majstorovi M, Luli-Duki O, Juri H -2001- Hypohidrotic ectodermal dysplasia: dental features and carriers detection. Coll Antropol 25:303\u2013310."},{"key":"GUCKES-ETAL-1998","unstructured":"Guckes A, Roberts M, McCarthy G -1998- Pattern of permanent teeth present in individual with ectodermal dysplasia and severe hypodontia suggests treatment with dental implants. Pediatr Dent 20:278\u2013280."},{"key":"GUCKES-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1067\/mpr.2002.127099"},{"key":"HAN-ETAL-2003","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(03)00300-2"},{"key":"HASHIGUCHI-ETAL-2003","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0625.2002.120423.x"},{"key":"HAWORTH-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01337"},{"key":"HILL-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1053\/jcpa.2001.0531"},{"key":"HUANG-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0071-8"},{"key":"ISGAARD-ETAL-1986","doi-asserted-by":"crossref","unstructured":"Isgaard J, Nilsson A, Lindahl A, Jansson JO, Isaksson OG -1986- Effects of local administration of GH and IGF-1 on longitudinal bone growth in rats. Am J Physiol 250-4 Pt 1-367\u2013372.","DOI":"10.1152\/ajpendo.1986.250.4.E367"},{"key":"ISHIMURA-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-169x.2000.00514.x"},{"key":"ITIN-AND-FISTAROL-2004","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30033"},{"key":"JERNVALL-ETAL-1994","unstructured":"Jernvall J, Kettunen P, Karavanova I, Martin LB, Thesleff I -1994- Evidence for the role of the enamel knot as a control center in mammalian tooth cusp formation: non-dividing cells express growth stimulating Fgf-4 gene. Int J Dev Biol 38:463\u2013469."},{"key":"JOHNSON-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10654"},{"key":"JORGENSON-1982","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110408"},{"key":"JOWETT-ETAL-1993","doi-asserted-by":"publisher","DOI":"10.1242\/dev.117.2.461"},{"key":"KANZLER-ETAL-2000","doi-asserted-by":"crossref","unstructured":"Kanzler B, Foreman R, Labosky P, Mallo M -2000- BMP signaling is essential for development of skeletogenic and neurogenic cranial neural crest. Development 127:1096\u20131104.","DOI":"10.1242\/dev.127.5.1095"},{"key":"KEARNS-ETAL-1999","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-2104(99)70185-X"},{"key":"KERE-ETAL-1996","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-409"},{"key":"KETTUNEN-AND-THESLEFF-1998","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199803)211:3<256::AID-AJA7>3.0.CO;2-G"},{"key":"KNIGHT-AND-SCHILLING-2006","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-46954-6_7"},{"key":"KOBIELAK-ETAL-2001A","unstructured":"Kobielak A, Kobielak K, Wisniewski SA, Midro AT, Trzeciak WH -2001a- Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia. Folia Histochem Cytobiol 39:113\u2013114."},{"key":"KOBIELAK-ETAL-2001B","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1225"},{"key":"KRAMER-ETAL-2007","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0501.2006.01180.x"},{"key":"KURIHARA-ETAL-2007","doi-asserted-by":"publisher","DOI":"10.1172\/JCI28267"},{"key":"LAMARTINE-2003","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2003.01319.x"},{"key":"LAURIKKALA-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9955"},{"key":"LEKHOLM-1986","unstructured":"Lekholm U -1986- Osseointegrated implants in clinical practice. J Oral Implantol 12:357\u2013364."},{"key":"LEVI-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2005.10.007"},{"key":"LEXNER-ETAL-2007A","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.2006.00801.x"},{"key":"LEXNER-ETAL-2007B","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00402.x"},{"key":"LIDRAL-AND-REISING-2002","doi-asserted-by":"publisher","DOI":"10.1177\/154405910208100410"},{"key":"LIN-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01547.x"},{"key":"LIND-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-7-80"},{"key":"LOMAGA-ETAL-1999","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.8.1015"},{"key":"MEYERS-ETAL-1998","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-136"},{"key":"MIKKOLA-ETAL-1999","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(99)00180-X"},{"key":"MONREAL-ETAL-1998","doi-asserted-by":"publisher","DOI":"10.1086\/301984"},{"key":"MONTONEN-ETAL-1998","doi-asserted-by":"publisher","DOI":"10.1177\/002215549804600301"},{"key":"MORLON-ETAL-2005","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi405"},{"key":"MOTIL-ETAL-2005","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-2830"},{"key":"NA-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1111\/j.0736-8046.2004.21510.x"},{"key":"NIE-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2005.01176.x"},{"key":"NISHIBU-ETAL-2003","doi-asserted-by":"publisher","DOI":"10.1159\/000071790"},{"key":"NORDGARDEN-ETAL-2001A","doi-asserted-by":"publisher","DOI":"10.1034\/j.1601-0825.2001.70305.x"},{"key":"NORDGARDEN-ETAL-2001B","doi-asserted-by":"publisher","DOI":"10.1034\/j.1601-0825.2001.70405.x"},{"key":"OGAWA-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M601543200"},{"key":"PAAKKONEN-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1002\/humu.34"},{"key":"PINHEIRO-AND-FREIRE-MAIA-1994","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530207"},{"key":"PISPA-ETAL-1999","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9514"},{"key":"PISPA-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20138"},{"key":"PRAGER-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1007\/s00056-006-0619-4"},{"key":"PRIOLO-AND-LAGANA-2001","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.9.579"},{"key":"PUMMILA-ETAL-2007","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02708"},{"key":"RAIBLE-2006","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2006.09.003"},{"key":"RAMADEVI-ETAL-2008","doi-asserted-by":"crossref","unstructured":"RamaDevi AR, Reddy EC, Ranjan S, Bashyam MD -2008- Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes. Br J Dermatol 158:163\u2013167.","DOI":"10.1111\/j.1365-2133.2007.08231.x"},{"key":"RAMIREZ-YANEZ-ETAL-2005","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/cji028"},{"key":"RAMOS-AND-ROBERT-2005","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2005.09.001"},{"key":"RIOLO-1974","unstructured":"Riolo ML -1974- An atlas of craniofacial growth. Michigan: Center for Human Growth and Development, 379 pp."},{"key":"RISNES-ETAL-2005","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2004.11.003"},{"key":"RUHIN-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569_2001_038_0504_pedrso_2.0.co_2"},{"key":"SAKSENA-AND-BIXLER-1990","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350120"},{"key":"SASAKI-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02200"},{"key":"SCHMIDT-ULLRICH-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02278"},{"key":"SCHNEIDER-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101280200"},{"key":"SHIGETANI-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9932"},{"key":"SKRINJARI-ETAL-2003","unstructured":"Skrinjari I, Skrinjari K, Vrani DN, Majstorovi M, Glavina D -2003- Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia-application in detection of gene carriers. Coll Antropol 27:753\u2013759."},{"key":"SMAHI-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.20.2371"},{"key":"SODERHOLM-AND-KAITILA-1985","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00373.x"},{"key":"SPFAER-1981","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.459"},{"key":"SRIVASTAVA-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.26.2973"},{"key":"TARIQ-ETAL-2007A","doi-asserted-by":"crossref","unstructured":"Tariq M, Wasif N, Ayub M, Ahmad W -2007a- A novel 4-bp insertion in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. Eur J Dermatol 17:209\u2013212.","DOI":"10.1111\/j.1365-2133.2007.07949.x"},{"key":"TARIQ-ETAL-2007B","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.07949.x"},{"key":"TARJAN-ETAL-2005","doi-asserted-by":"publisher","DOI":"10.1016\/j.prosdent.2005.01.012"},{"key":"THOMAS-AND-SHARPE-1998","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.1998.tb02153.x"},{"key":"TRIBULO-ETAL-2003","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00878"},{"key":"TUCKER-ETAL-1998","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199808)212:4<533::AID-AJA6>3.0.CO;2-I"},{"key":"TUCKER-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2003.12.019"},{"key":"UMBERTO-ETAL-2007","doi-asserted-by":"publisher","DOI":"10.1097\/01.scs.0000246497.62065.5a"},{"key":"VAN-DER-HOUT-ETAL-2008","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5202012"},{"key":"VAN-ERUM-ETAL-1997","doi-asserted-by":"publisher","DOI":"10.1177\/00220345970760091001"},{"key":"VASTARDIS-ETAL-1996","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-417"},{"key":"VIERUCCI-ETAL-1994","unstructured":"Vierucci S, Baccetti T, Tollaro I -1994- Dental and craniofacial findings in hypohidrotic ectodermal dysplasia during the primary dentition phase. J Clin Pediatr Dent 18:291\u2013297."},{"key":"VINCENT-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200635"},{"key":"VINOLO-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M510118200"},{"key":"VISINONI-ETAL-2003","doi-asserted-by":"crossref","unstructured":"Visinoni AF, De Souza RL, Freire-Maia N, Gollop TR, Chautard-Freire-Maia EA -2003- X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families. Am J Med Genet A 122:51\u201355.","DOI":"10.1002\/ajmg.a.20276"},{"key":"YAVUZ-ETAL-2006","doi-asserted-by":"publisher","DOI":"10.1016\/j.arcmed.2005.06.016"},{"key":"ZHANG-ETAL-2003","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.10274"}],"container-title":["Journal of Dental Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/154405910808701205","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/154405910808701205","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/154405910808701205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:04:04Z","timestamp":1777496644000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/154405910808701205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12]]},"references-count":125,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1177\/154405910808701205"],"URL":"https:\/\/doi.org\/10.1177\/154405910808701205","relation":{},"ISSN":["0022-0345","1544-0591"],"issn-type":[{"value":"0022-0345","type":"print"},{"value":"1544-0591","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12]]}}}