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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Detalles Bibliográficos
Autores principales: Mattos, Eduardo P., Sanseverino, Maria Teresa V., Magalhães, José Antônio A., Leite, Júlio César L., Félix, Temis Maria, Todeschini, Luiz Alberto, Cavalcanti, Denise P., Schüler-Faccini, Lavinia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2015
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415563/
https://www.ncbi.nlm.nih.gov/pubmed/25983619
http://dx.doi.org/10.1590/S1415-475738120140147

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