A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene / 소아과
Korean Journal of Pediatrics
;
: 1018-1021, 2010.
Artículo
en Inglés
| WPRIM
| ID: wpr-227770
ABSTRACT
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 abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Canal Anal
/
Ano Imperforado
/
Radio (Anatomía)
/
Columna Vertebral
/
Pulgar
/
Tráquea
/
Anomalías Múltiples
/
Cromosomas Humanos Par 22
/
Deformidades Congénitas de las Extremidades
/
Craneosinostosis
Tipo de estudio:
Estudio diagnóstico
Límite:
Animales
/
Humanos
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2010
Tipo del documento:
Artículo
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