Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome

GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, fro...

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Veröffentlicht in:Am J Med Genet A
Hauptverfasser: Bayram, Yavuz, Pehlivan, Davut, Karaca, Ender, Gambin, Tomasz, Jhangiani, Shalini N., Erdin, Serkan, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna, Elcioglu, Nursel H., Yildirim, M. Selman, Bozkurt, Banu, Zamani, Ayse Gul, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4332576/
https://ncbi.nlm.nih.gov/pubmed/25045128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36678
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