Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
about
New insights into craniofacial malformationsViable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutationThe old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical dataGenomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation.Specification of jaw identity by the Hand2 transcription factorDe Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.Review of the Genetic Basis of Jaw Malformations.Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.Nkx2.5 regulates endothelin converting enzyme-1 during pharyngeal arch patterning.Mandibulofacial dysostosis Bauru type: Refining the phenotype.
P2860
Q28088384-1897AAEA-C662-4AD7-93E4-D5608E153500Q30369032-0B60BD49-BB62-4BB5-9067-C57BD4A48F1DQ31039716-A860BC21-5C11-42E7-B937-CB5BA7C627E2Q37027453-BD8C5875-BA31-4C99-BD75-1CB8A4087FB6Q37027898-30D7D7CD-DBF6-4445-8411-5C32CE0E60DEQ38993202-E1568030-5BAF-423C-8BEC-70D7AF4371B5Q39023021-9F53844A-32ED-4D99-AEC9-B0F90EAD0655Q41918292-B0E3E045-E69D-4785-97D3-F7D1C0293C86Q43615322-C5A0FF2B-D651-4D54-B8B4-A80DDD3C9A0DQ53747611-37D42B54-5221-4A09-9B8E-3F9FE8909FCC
P2860
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Mutations in the endothelin re ...... acial dysostosis with alopecia
@ast
Mutations in the endothelin re ...... acial dysostosis with alopecia
@en
type
label
Mutations in the endothelin re ...... acial dysostosis with alopecia
@ast
Mutations in the endothelin re ...... acial dysostosis with alopecia
@en
prefLabel
Mutations in the endothelin re ...... acial dysostosis with alopecia
@ast
Mutations in the endothelin re ...... acial dysostosis with alopecia
@en
P2093
P2860
P50
P1476
Mutations in the endothelin re ...... acial dysostosis with alopecia
@en
P2093
Andre L P Tavares
Arnaud Picard
Cécile Masson
Daniela Gamba Garib
David D Weaver
David E Clouthier
Erik C Madsen
Hiroki Kurihara
Howard M Saal
Igor Adameyko
P2860
P304
P356
10.1016/J.AJHG.2015.01.015
P407
P50
P577
2015-03-12T00:00:00Z