Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant-Reference-Cited by-同舟云学术

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

Published:2016-03-30 Issue:1 Volume:160 Page:161-167
ISSN:1213-8118
Container-title:Biomedical Papers
language:
Short-container-title:BIOMED PAP

Author:

Jezela-Stanek Aleksandra,Kucharczyk Marzena,Falana Katarzyna,Jurkiewicz Dorota,Mlynek Marlena,Wicher Dorota,Rydzanicz Malgorzata,Kugaudo Monika,Cieslikowska Agata,Ciara Elzbieta,Ploski Rafal,Krajewska-Walasek Malgorzata

Publisher

Palacky University Olomouc

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://biomed.papers.upol.cz/doi/10.5507/bp.2016.006.pdf

Reference20 articles.

1. A novel microdeletion/microduplication syndrome of 19p13.13

2. Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

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