Bamforth-Lazarus syndrome is an autosomal recessive athyroid disorder caused by mutations of the FOXE1 gene.
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.[^]