A Novel Mutation in the ADAMTS10 Associated with Weil–Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart

Weill–Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia and ectopia of the lenses, and, occasi...

Descripción completa

Detalles Bibliográficos
Autores principales: Levitas, Aviva, Aspit, Liam, Lowenthal, Neta, Shaki, David, Krymko, Hanna, Slanovic, Leonel, Yagev, Ronit, Parvari, Ruti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219133/
https://www.ncbi.nlm.nih.gov/pubmed/37240210
http://dx.doi.org/10.3390/ijms24108864

Ejemplares similares

Ejemplares similares