A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of FBN1 Causes Weill–Marchesani...
A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of FBN1 Causes Weill–Marchesani Syndrome with Intellectual Disability
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India: Wolters Kluwer - Medknow
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English
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India: Wolters Kluwer - Medknow
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Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by locus heterogeneity and variable expressivity. Patients suffering from WMS are described by short stature, brachydactyly, joint stiffness, congenital heart defects, and eye abnormalities. This disorder is inherited in two different modes; the autosomal dominant fo...
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A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of FBN1 Causes Weill–Marchesani Syndrome with Intellectual Disability
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TN_cdi_doaj_primary_oai_doaj_org_article_c53ac74f96a04883b9b9280116e47073
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c53ac74f96a04883b9b9280116e47073
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ISSN
2277-9175
E-ISSN
2277-9175
DOI
10.4103/abr.abr_138_22
