Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 4, Pages 496-499Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.32168
Keywords
Denys-Drash syndrome; congenital diaphragmatic hernia; WTI; chromosome 11p13; Arg366his
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Congenital diaphragmatic hernia (CDH) is a disorder of the development of the lung and diaphragm and is associated with pulmonary hypoplasia and pulmonary hypertension. Denys-Drash syndrome (DDS) is a well-known syndrome caused by several different germline mutations in the WT1-gene. CDH in DDS is rare. We present the third case of CDH with clinical features of DDS and the same, rare Arg366His mutation in the WT1-gene, as reported in the other two known cases. This report provides additional evidence that WT1 mutations can result in diaphragmatic hernia. (c) 2008 Wiley-Liss, Inc.
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