Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene-Reference-Cited by-同舟云学术

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene

Published:2010-08-26 Issue:3 Volume:36 Page:315-323
ISSN:0960-7692
Container-title:Ultrasound in Obstetrics and Gynecology
language:en
Short-container-title:Ultrasound Obstet Gynecol

Author:

Gentilin B.,Forzano F.,Bedeschi M. F.,Rizzuti T.,Faravelli F.,Izzi C.,Lituania M.,Rodriguez-Perez C.,Bondioni M. P.,Savoldi G.,Grosso E.,Botta G.,Viora E.,Baffico A. M.,Lalatta F.

Publisher

Wiley

Subject

Obstetrics and Gynecology,Radiology, Nuclear Medicine and imaging,Reproductive Medicine,General Medicine,Radiological and Ultrasound Technology

Reference29 articles.

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2. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9;Wagner;Cell,1994

3. A novel germ line mutation in the SOX9 causes familial Campomelic dysplasia and sex reversal;Cameron;Hum Mol Genet,1996

4. Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father;Smyk;Am J Med Genet A,2007

5. The phenotype of survivors of campomelic dysplasia;Mansour;J Med Genet,2002

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