{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:57Z","timestamp":1789447437144,"version":"build-2803163510"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,12,6]],"date-time":"2015-12-06T00:00:00Z","timestamp":1449360000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Institute of Health Carlos III","doi-asserted-by":"publisher","award":["PI10\/0148"],"award-info":[{"award-number":["PI10\/0148"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Institute of Health Carlos III","doi-asserted-by":"publisher","award":["PI13\/00467"],"award-info":[{"award-number":["PI13\/00467"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Autosomal\u2010dominant brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Alterations that predict haploinsufficiency of <jats:italic>PTHLH<\/jats:italic>, the gene coding for parathyroid hormone related protein (PTHrP), have been identified as a cause of this disorder in seven families. Here, we report three patients affected with brachydactyly type E, caused by <jats:italic>PTHLH<\/jats:italic> mutations expected to result in haploinsufficiency, and discuss our data compared to published reports. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37490","type":"journal-article","created":{"date-parts":[[2015,12,7]],"date-time":"2015-12-07T04:36:27Z","timestamp":1449462987000},"page":"734-742","source":"Crossref","is-referenced-by-count":30,"title":["Report of two novel mutations in <i>PTHLH<\/i> associated with brachydactyly type E and literature review"],"prefix":"10.1002","volume":"170","author":[{"given":"Cecile","family":"Thomas\u2010Teinturier","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, APHP H\u00f4pital Bic\u00eatre Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arrate","family":"Pereda","sequence":"additional","affiliation":[{"name":"Molecular (Epi)Genetics Laboratory BioAraba National Health Institute, Hospital Universitario Araba\u2010Txagorritxu Vitoria\u2010Gasteiz Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Intza","family":"Garin","sequence":"additional","affiliation":[{"name":"Molecular (Epi)Genetics Laboratory BioAraba National Health Institute, Hospital Universitario Araba\u2010Txagorritxu Vitoria\u2010Gasteiz Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Diez\u2010Lopez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario Araba\u2010Txagorritxu Vitoria\u2010Gasteiz Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Linglart","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, APHP H\u00f4pital Bic\u00eatre Le Kremlin Bic\u00eatre France"},{"name":"INSERM U1169, H\u00f4pital Bic\u00eatre Le Kremlin Bic\u00eatre, et Universit\u00e9 Paris\u2010Saclay France"},{"name":"Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du calcium et du phosphore and Plateforme d'Expertise Paris Sud Maladies Rares H\u00f4pital Bic\u00eatre Le Kremlin Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Silve","sequence":"additional","affiliation":[{"name":"INSERM U1169, H\u00f4pital Bic\u00eatre Le Kremlin Bic\u00eatre, et Universit\u00e9 Paris\u2010Saclay France"},{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaires H\u00f4pital Cochin Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guiomar P\u00e9rez","family":"de Nanclares","sequence":"additional","affiliation":[{"name":"Molecular (Epi)Genetics Laboratory BioAraba National Health Institute, Hospital Universitario Araba\u2010Txagorritxu Vitoria\u2010Gasteiz Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,12,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22646"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.76.050106.093909"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1147-1"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33567"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn176"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/1043-2760(93)90114-T"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-4164"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.58"},{"key":"e_1_2_7_11_1","unstructured":"GreulichWW PyleSI.1959. Radiographic atlas of skeletal development of the hand and wrist (Second Edition) Stanford University Press. 272 p."},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1403"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1094-195"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.3.277"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.023"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp553"},{"key":"e_1_2_7_17_1","first-page":"320","article-title":"Mutations associated with variant phenotypes in ataxia\u2010telangiectasia","volume":"59","author":"McConville CM","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302857"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01238.x"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-141"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.25.13689"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1138\/20100465"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/bonekey.2012.225"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.2217\/fon.12.76"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200001203420306"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.1985.tb00636.x"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-15"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.273.5275.613"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.03.019"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.4.1788"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.7.1285"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37490","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37490","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T02:00:08Z","timestamp":1696644008000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37490"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,6]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1002\/ajmg.a.37490"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37490","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,6]]}}}