A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnorm...

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Detalles Bibliográficos
Autores principales: Choi, Won Ik, Kim, Ji Hye, Yoo, Han Wook, Oh, Sung Hee
Formato: Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021728/
https://www.ncbi.nlm.nih.gov/pubmed/21253317
http://dx.doi.org/10.3345/kjp.2010.53.12.1018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021728/
https://www.ncbi.nlm.nih.gov/pubmed/21253317
http://dx.doi.org/10.3345/kjp.2010.53.12.1018

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