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Bamforth- Lazarus syndrome. An 8 month old infant with a homozygous mutation in the TTF-2 gene locus leading to congenital hypothyroidism. Phenotypic features include, low set ears, extensive cleft palate, hypertelorism, spiky hair and low posterior hairline. (Taken from; A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate; Human Molecular Genetics, 2002, Vol. 11, No. 17. Courtesy Dr. Michel Polak and the Oxford University Press.)
TTF-2 - a homozygous missense mutation in TTF-2 causes a genetic syndrome of thyroid dysgenesis, choanal atresia, cleft palate and spiky hair [22]. This syndrome has been recently referred to as Bamforth-Lazarus Syndrome [35]. 59ce067264
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