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A second locus for Marfan syndrome maps to chromosome 3p24.2-p25

Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder. It involves predominantly three systems (skeletal, ocular, and cardiovascular systems) and is characterized by highly variable expressivity. The diagnosis relies solely on clinical criteria requiring anomalies in at least two...

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Hlavní autoři: Collod, Gwenaëlle, Babron, Marie-Claude, Jondeau, Guillaume, Coulon, Monique, Weissenbach, Jean, Dubourg, Olivier, Bourdarias, Jean-Pierre, Bonaïti-Pellié, Catherine, Junien, Claudine, Boileau, Catherine
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Pub. Co. 1994
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2045693/
https://ncbi.nlm.nih.gov/pubmed/7632217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1194-264
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