A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia

Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a trans...

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Hlavní autoři:	Vorasuk Shotelersuk, Somchit Jaruratanasirikul, Thivaratana Sinthuwiwat, Waricha Janjindamai
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Sociedade Brasileira de Genética 2006-01-01
Edice:	Genetics and Molecular Biology
Témata:	SOX9 campomelic dysplasia mutation
On-line přístup:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400007
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