A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the 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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| Autores principales: | , , , |
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| Formato: | Libro |
| Publicado: |
Korean Pediatric Society,
2010-12-01T00:00:00Z.
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| Acceso en línea: | Connect to this object online. |
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| Número de Clasificación: |
A1234.567 |
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| Copia 1 | Disponible |