A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance

Synpolydactyly 1 (SPD1; OMIM 186000), also known as type II syndactyly, is a dominantly inherited limb malformation that is characterized by an increased number of digits. SPD1 is most commonly caused by polyalanine repeat expansions in the coding region of the HOXD13 gene, which are believed to sho...

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Detalles Bibliográficos
Autores principales: Kurban, Mazen, Wajid, Muhammad, Petukhova, Lynn, Shimomura, Yutaka, Christiano, Angela M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296310/
https://www.ncbi.nlm.nih.gov/pubmed/21814222
http://dx.doi.org/10.1038/jhg.2011.84

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296310/
https://www.ncbi.nlm.nih.gov/pubmed/21814222
http://dx.doi.org/10.1038/jhg.2011.84

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