✦ LIBER ✦

Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia

✍ Scribed by JAMIE W FOSTER

Book ID: 115176889
Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 563 KB
Volume: 38
Category: Article
ISSN: 1328-8067
DOI: 10.1111/j.1442-200x.1996.tb03515.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel SOX9 Gene Mutation in Campomelic D

Novel SOX9 Gene Mutation in Campomelic Dysplasia with Autosomal Sex Reversal

✍ Hui-Pin Hsiao; Li-Ping Tsai; Mei-Chyn Chao; Hsin-I Tseng; Yuli C. Chang 📂 Article 📅 2006 🏛 Chinese Electronic Periodical Services 🌐 English ⚖ 408 KB

A novel germ line mutation in SOX9 cause

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal

✍ Cameron, F. 📂 Article 📅 1996 🏛 Oxford University Press 🌐 English ⚖ 154 KB

Campomelic dysplasia and autosomal sex r

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

✍ Foster, Jamie W.; Dominguez-Steglich, Marina A.; Guioli, Silvana; Kwok, Cheni; W 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 837 KB

Compound Effects of Point Mutations Caus

Compound Effects of Point Mutations Causing Campomelic Dysplasia/Autosomal Sex Reversal upon SOX9 Structure, Nuclear Transport, DNA Binding, and Transcriptional Activation

✍ Preiss, S. 📂 Article 📅 2001 🏛 The American Society for Biochemistry and Molecula 🌐 English ⚖ 786 KB

A novel SOX9 mutation, 972delC, causes 4

A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma

✍ Nicholas G. Cost; Aaron T. Ludwig; Duncan T. Wilcox; Dinesh Rakheja; Steven J. S 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 533 KB

Mutation analysis of SOX9 and single cop

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

✍ Yuka Wada; Gen Nishimura; Toshiro Nagai; Hideaki Sawai; Mayumi Yoshikata; Shinic 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 166 KB