A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of FBN1 Causes Weill–Marchesani Syndrome with Intellectual Disability

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: Hassani, Mahdieh, Taghizadeh, Sara, Farahzad Broujeni, Anahita, Habibi, Mahvash, Banitalebi, Setareh, Kasiri, Mahbubeh, Sadeghi, Alireza, Nozari, Ahoura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241635/
https://www.ncbi.nlm.nih.gov/pubmed/37288014
http://dx.doi.org/10.4103/abr.abr_138_22

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241635/
https://www.ncbi.nlm.nih.gov/pubmed/37288014
http://dx.doi.org/10.4103/abr.abr_138_22

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