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Article

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

Orphanet journal of rare diseases - 11 Apr 2014

Philips Anju K, Sirén Auli, Avela Kristiina, Somer Mirja, Peippo Maarit, Ahvenainen Minna, Doagu Fatma, Arvio Maria, Kääriäinen Helena, Van Esch Hilde, Froyen Guy, Haas Stefan A, Hu Hao, Kalscheuer Vera M, Järvelä Irma

Abstract excerpt

BACKGROUND: X-linked intellectual disability (XLID) is a group of genetically heterogeneous disorders characterized by substantial impairment in cognitive abilities, social and behavioral adaptive skills. Next generation sequencing technologies have become a powerful approach for identifying molecular gene mutations relevant for diagnosis. METHODS & OBJECTIVES: Enrichment of X-chromosome specific exons and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24721225
DOI: 10.1186/1750-1172-9-49
PMCID: PMC4022384

Genes

SYP
ZMYM3
DLG3
GRIA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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