Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Bamforth-Lazarus syndrome is an autosomal recessive athyroid disorder caused by mutations of the FOXE1 gene.
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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
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Wikipedia article Wikipedia EN (Bamforth–Lazarus_syndrome)
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