Bamforth-Lazarus-Syndrom ist eine autosomal rezessive Erkrankung mit fehlender Schilddrüse, die durch Mutationen im FOXE1-gen ausgelöst wird.
1. |
Bamforth JS et al. (1989) Congenital hypothyroidism, spiky hair, and cleft palate. |
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Clifton-Bligh RJ et al. (1998) Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. |
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Castanet M et al. (2002) A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. |
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Baris I et al. (2006) A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. |
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Buntincx IM et al. (1993) Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. |
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OMIM.ORG article Omim 241850 |
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Orphanet article Orphanet ID 1226 |