Article
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.
American journal of medical genetics - 1 Mar 2002
Kristiansen Marianne, Knudsen Gun Peggy, Søyland Anne, Westvik Jostein, Ørstavik Karen Helene
Abstract excerpt
Melnick-Needles syndrome is a rare putative X-linked dominant bone dysplasia. The patients have short stature, characteristic facial features, and a normal intelligence. The skeletal dysplasia includes S-shaped curvature of tubular bones and sclerosis of the base of the skull. The phenotype of affected individuals varies, even within families. This could be related to X chromosome inactivation. We report here on...
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