In:
American Journal of Medical Genetics Part A, Wiley, Vol. 170, No. 3 ( 2016-03), p. 734-742
Abstract:
Autosomal‐dominant 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 PTHLH , 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 PTHLH mutations expected to result in haploinsufficiency, and discuss our data compared to published reports. © 2015 Wiley Periodicals, Inc.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v170.3
DOI:
10.1002/ajmg.a.37490
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
1493479-6
SSG:
12