Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

BACKGROUND: Type II syndactyly or synpolydactyly (SPD) is clinically very heterogeneous, and genetically three distinct SPD conditions are known and have been designated as SPD1, SPD2 and SPD3, respectively. SPD1 type is associated with expansion mutations in HOXD13, resulting in an addition of ≥ 7...

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Detalles Bibliográficos
Autores principales: Malik, Sajid, Girisha, KM, Wajid, Muhammad, Roy, Akhilesh K, Phadke, Shubha R, Haque, Sayedul, Ahmad, Wasim, Koch, Manuela C, Grzeschik, Karl-Heinz
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222244/
https://www.ncbi.nlm.nih.gov/pubmed/18072967
http://dx.doi.org/10.1186/1471-2350-8-78

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222244/
https://www.ncbi.nlm.nih.gov/pubmed/18072967
http://dx.doi.org/10.1186/1471-2350-8-78

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