Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

Weill–Marchesani syndrome is a rare disorder of the connective tissue. Functional variants in ADAMTS10 are associated with Weill–Marchesani syndrome-1. We identified a homozygous missense mutation, c.41T>A, of the ADAMTS10 gene in a 19-year-old female with typical symptoms of WMS1: proportionate...

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Detalles Bibliográficos
Autores principales: Steinkellner, Hannes, Etzler, Julia, Gogoll, Laura, Neesen, Jürgen, Stifter, Eva, Brandau, Oliver, Laccone, Franco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538198/
https://www.ncbi.nlm.nih.gov/pubmed/25469541
http://dx.doi.org/10.1038/ejhg.2014.264

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538198/
https://www.ncbi.nlm.nih.gov/pubmed/25469541
http://dx.doi.org/10.1038/ejhg.2014.264

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