Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature

Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature

Abstract Background Malan syndrome is a recently introduced overgrowth disorder described in a limited number of individuals. Haploinsufficiency and also point mutations of NFIX gene have been proposed as its leading causative mechanism, however, due to the limited number of cases and different dele...

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Bibliographic Details
Main Authors: Fernanda T. Bellucco, Claudia B. deMello, Vera A. Meloni, Maria Isabel Melaragno
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
19p13.2 microdeletion
CACNA1A
Malan syndrome
NFIX
overgrowth disorder
Online Access:https://doi.org/10.1002/mgg3.997

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