Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

Postaxial polydactyly (PAP) is a common limb malformation that often leads to cosmetic and functional complications. Molecular evaluation of polydactyly can serve as a tool to elucidate genetic and signaling pathways that regulate limb development, specifically, the anterior-posterior specification...

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Publicado en:Hum Genet
Autores principales: Ullah, Irfan, Kakar, Naseebullah, Schrauwen, Isabelle, Hussain, Shabir, Chakchouk, Imen, Liaqat, Khurram, Acharya, Anushree, Wasif, Naveed, Santos-Cortez, Regie Lyn P., Khan, Saadullah, Aziz, Abdul, Lee, Kwanghyuk, Couthouis, Julien, Horn, Denise, Kragesteen, Bjørt K., Spielmann, Malte, Thiele, Holger, Nickerson, Deborah A., Bamshad, Michael J., Gitler, Aaron D., Ahmad, Jamil, Ansar, Muhammad, Borck, Guntram, Ahmad, Wasim, Leal, Suzanne M.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6724712/
https://ncbi.nlm.nih.gov/pubmed/30982135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-02000-0
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