Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, a...

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Bibliographic Details
Main Authors: Eduardo P. Mattos, Maria Teresa V. Sanseverino, José Antônio A. Magalhães, Júlio César L. Leite, Temis Maria Félix, Luiz Alberto Todeschini, Denise P. Cavalcanti, Lavinia Schüler-Faccini
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2015-03-01
Series:Genetics and Molecular Biology
Subjects:
campomelic dysplasia
skeletal dysplasia
osteochondrodysplasias
SOX9
prenatal diagnosis
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100014&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100014&lng=en&tlng=en

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