Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

To date, two maternal-effect genes have been shown to have causative roles in recurrent hydatidiform moles (RHMs); NLRP7 that is mutated in 48–60% of patients with RHMs and C6orf221 (HUGO-approved nomenclature is now KHDC3L), a recently identified gene, that is mutated in 14% of patients with RHMs w...

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Main Authors: Reddy, Ramesh, Akoury, Elie, Phuong Nguyen, Ngoc Minh, Abdul-Rahman, Omar A, Dery, Christine, Gupta, Neerja, Daley, William P, Ao, Asangla, Landolsi, Hanene, Ann Fisher, Rosemary, Touitou, Isabelle, Slim, Rima
Format: Text
Language:English
Published: Nature Publishing Group 2013
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC3746251/
https://pubmed.ncbi.nlm.nih.gov/23232697
http://dx.doi.org/10.1038/ejhg.2012.274
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https://pmc.ncbi.nlm.nih.gov/articles/PMC3746251/
https://pubmed.ncbi.nlm.nih.gov/23232697
http://dx.doi.org/10.1038/ejhg.2012.274

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