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Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.

Scientific reports - 30 Nov 2021

Pastore Stephen F, Muhammad Tahir, Harripaul Ricardo, Lau Rebecca, Khan Muhammad Tariq Masood, Khan Muhammad Ismail, Islam Omar, Kang Changsoo, Ayub Muhammad, Jelani Musharraf, Vincent John B

Abstract excerpt

In a multi-branch family from Pakistan, individuals presenting with palmoplantar keratoderma segregate in autosomal dominant fashion, and individuals with intellectual disability (ID) segregate in apparent autosomal recessive fashion. Initial attempts to identify the ID locus using homozygosity-by-descent (HBD) mapping were unsuccessful. However, following an assumption of locus heterogeneity, a reiterative HBD...

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PMID: 34848785
DOI: 10.1038/s41598-021-02599-z
PMCID: PMC8632963

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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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