Article
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
Human mutation - 1 May 2004
Hämäläinen Riikka H, Avela Kristiina, Lambert Julie A, Kallijärvi Jukka, Eyaid Wafaa, Gronau Jürgen, Ignaszewski Andrew P, McFadden Deborah, Sorge Giovanni, Lipsanen-Nyman Marita, Lehesjoki Anna-Elina
Abstract excerpt
Mulibrey nanism is an autosomal recessive prenatal-onset growth disorder of unknown pathogenesis. The main clinical features are pre- and postnatal growth failure, characteristic dysmorphic craniofacial features, heart disease, and hepatomegaly. Five truncating mutations in the TRIM37 gene have previously been reported in Mulibrey nanism patients. The TRIM37 protein encodes a novel protein of unknown function. It...
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