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Article

Exome sequencing identifies novel and known mutations in families with intellectual disability.

BMC medical genomics - 27 Aug 2021

Rasheed Memoona, Khan Valeed, Harripaul Ricardo, Siddiqui Maimoona, Malik Madiha Amin, Ullah Zahid, Zahid Muhammad, Vincent John B, Ansar Muhammad

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder. METHODS: In this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani families with ID. Beside ID, most of the affected individuals had speech delay, facial dysmorphism and impaired cognitive abilities. Repetitive behavior was observed in MRID143,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34452636
DOI: 10.1186/s12920-021-01066-y
PMCID: PMC8399827

Provenance

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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