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Article

[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria].

Revista de neurologia - 16 Dec 2019

Castro-Gago M, Gómez-Lado C, Barros-Angueira F, Trujillo-Ariza M V, Fuentes-Pita P, López-Vázquez A M, Eirís-Puñal J

Abstract excerpt

INTRODUCTION: The aetiology of autosomal dominant mental retardation type 1, also known as pseudo-Angelman, MBD5-associated neurodevelopmental disorder or MBD5 haploinsufficiency, lies in a microdeletion of chromosome 2q23.1 or in a specific alteration of the MBD5 gene, which constitutes the minimum region affected in the aforementioned microdeletion. AIM: To report the case of a girl with a heterozygous de novo...

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PMID: 31820818
DOI: 10.33588/rn.6912.2019372

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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