A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

Abstract Background The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus–Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region. Met...

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Bibliographic Details
Main Authors: Swati R. Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M. Melikishvili, Sue Moyer Harasink, Harpreet Pall, Philip F. Giampietro
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
FG syndrome
MID2
Opitz‐Kaveggia syndrome type 5
Pelizaeus–Merzbacher disease
PLP1
Online Access:https://doi.org/10.1002/mgg3.1078

Internet

https://doi.org/10.1002/mgg3.1078

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