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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Pubblicato in:Hum Genet
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online: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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