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Resolution: standard / high Figure 3.
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.)
Rastogi and LaFranchi Orphanet Journal of Rare Diseases 2010 5:17 doi:10.1186/1750-1172-5-17 |