Article
A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.
Clinical dysmorphology - 1 Jul 2007
Doğancı Tümay, Yüksel Konuk Berrin E, Alpan Nursel, Konuk Onur, Hämäläinen Riikka H, Lehesjoki Anna-Elina, Tekin Mustafa
Abstract excerpt
Mulibrey nanism is a rare autosomal-recessive disorder characterized by prenatal onset severe growth retardation and pericardial constriction associated with abnormalities of muscle, liver, brain and eye. More than 80% of previously reported patients are of Finnish origin in whom a founder mutation in the TRIM37 gene have been described. We report on a 7-year-old Turkish boy who presented with classical...
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