Bamforth-Lazarus-Syndrom

Bamforth JS et al. (1989) Congenital hypothyroidism, spiky hair, and cleft palate.

Clifton-Bligh RJ et al. (1998) Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.

Castanet M et al. (2002) A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Baris I et al. (2006) A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.

Buntincx IM et al. (1993) Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.

OMIM.ORG article

Orphanet article