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.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Canal anal
/
Imperforation anale
/
Radius
/
Rachis
/
Pouce
/
Trachée
/
Malformations multiples
/
Chromosomes humains de la paire 22
/
Anomalies morphologiques congénitales des membres
/
Craniosynostoses
Type d'étude:
Etude diagnostique
Limites du sujet:
Animaux
/
Humains
langue:
Anglais
Texte intégral:
Korean Journal of Pediatrics
Année:
2010
Type:
Article
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