Article
A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2015
Sag S Ozemri, Gorukmez O, Topak A, Gorukmez O, Ture M, Sahinturk S, Gulten T, Yakut T
Abstract excerpt
Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton. Furthermore it is related to axial skeleton and leads to wedging of vertebral bodies, with shorter dorsal margins than the ventral...
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