GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

Larsen syndrome is characterized by the dislocation of large joints and other less consistent clinical findings. Heterozygous FLNB mutations account for the majority of Larsen syndrome cases, but biallelic mutations in CHST3 and B4GALT7 have been more recently described, thus confirming the existenc...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Patel, Nisha, Shamseldin, Hanan E., Sakati, Nadia, Khan, Arif O., Softa, Ameen, Al-Fadhli, Fatima M., Hashem, Mais, Abdulwahab, Firdous M., Alshidi, Tarfa, Alomar, Rana, Alobeid, Eman, Wakil, Salma M., Colak, Dilek, Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5420357/
https://ncbi.nlm.nih.gov/pubmed/28475863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.04.008
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados