Article
Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.
Clinical genetics - 1 Dec 2017
Sharony R, Borochowitz Z, Cohen L, Shtorch-Asor A, Rosenfeld R, Modai S, Reinstein E
Abstract excerpt
Metaphyseal anadysplasia (MANDP) is a rare autosomal recessive form of skeletal dysplasia characterized by normal length at birth and transitory bowing of the legs. Although several families with MANDP have been reported, homozygous mutations in the matrix metalloproteinase type 9 (MMP9) gene have been described in only one consanguineous family, and thus the pre and postnatal phenotypic spectrum is still...
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