Report of a Novel Missense Mutation in the Gene in a Middle-aged Man with Intellectual Disability Syndrome

Overview

Journal Clin Case Rep

Date 2021 Aug 30

PMID 34457282

Citations 1

Authors

Maria Arvio

Maria Haanpaa

Pia Pohjola

Jaana Lahdetie

Affiliations

Soon will be listed here.

Abstract

Exome sequencing revealed the cause of our 35-year-old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2.

Citing Articles

Broadening the Phenotype Spectrum of MECP2 Variants in Men.

Lotjonen J, Kurra V, Laivuori H, Bjelogrlic N Mol Genet Genomic Med. 2025; 13(2):e70056.

PMID: 39887655 PMC: 11780493. DOI: 10.1002/mgg3.70056.

Report of a novel missense mutation in the gene in a middle-aged man with intellectual disability syndrome.

Arvio M, Haanpaa M, Pohjola P, Lahdetie J Clin Case Rep. 2021; 9(8):e04602.

PMID: 34457282 PMC: 8380086. DOI: 10.1002/ccr3.4602.

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