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...

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Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2017
Fag:
Report
Online adgang: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
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