Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

Weill–Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of lens, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inher...

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Veröffentlicht in:	American journal of medical genetics 2003-12, Vol.123A (2), p.204-207
Hauptverfasser:	Faivre, Laurence, Dollfus, Hélène, Lyonnet, Stanislas, Alembik, Yves, Mégarbané, André, Samples, John, Gorlin, Robert J., Alswaid, Abdulrahman, Feingold, Josué, Le Merrer, Martine, Munnich, Arnold, Cormier-Daire, Valérie
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adult Biological and medical sciences chromosome 19p13.3-p13.2 clinical homogeneity Dwarfism - genetics Eye Abnormalities - genetics fibrillin-1 gene General aspects. Genetic counseling Genetic Heterogeneity Growth Disorders - genetics Humans Inheritance Patterns - genetics Medical genetics Medical sciences Phenotype Syndrome Weill-Marchesani syndrome
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