Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

Brachydactyly type A1 is an autosomal dominant disorder primarily characterized by hypoplasia/aplasia of the middle phalanges of digits 2–5. Human and mouse genetic perturbations in the BMP-SMAD signaling pathway have been associated with many brachymesophalangies, including BDA1, as causative mutat...

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Detalles Bibliográficos
Autores principales: Racacho, Lemuel, Byrnes, Ashley M, MacDonald, Heather, Dranse, Helen J, Nikkel, Sarah M, Allanson, Judith, Rosser, Elisabeth, Underhill, T Michael, Bulman, Dennis E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795202/
https://www.ncbi.nlm.nih.gov/pubmed/25758993
http://dx.doi.org/10.1038/ejhg.2015.38

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795202/
https://www.ncbi.nlm.nih.gov/pubmed/25758993
http://dx.doi.org/10.1038/ejhg.2015.38

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