Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome

Axenfeld–Rieger syndrome (ARS) is a disorder affecting the anterior segment of the eye, often leading to secondary glaucoma and several systemic malformations. It is inherited in an autosomal dominant fashion that has been associated with genetic defects in PITX2 and FOXC1. Known genes CYP1b1, PITX2...

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Detalhes bibliográficos
Publicado no:Neurogenetics
Main Authors: Micheal, Shazia, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Venselaar, Hanka, Qamar, Raheel, Khan, Muhammad Imran, den Hollander, Anneke I.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4701771/
https://ncbi.nlm.nih.gov/pubmed/26489929
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-015-0462-0
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