Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Title
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 19, Issue 1, Pages 115-117
Publisher
Springer Nature
Online
2010-08-11
DOI
10.1038/ejhg.2010.132

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