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Article

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

BMC medical genetics - 16 Feb 2016

Shah Khadim, Ali Raja Hussain, Ansar Muhammad, Lee Kwanghyuk, Chishti Muhammad Salman, Abbe Izoduwa, Li Biao, Smith Joshua D, Nickerson Deborah A, Shendure Jay, Coucke Paul J, Steyaert Wouter, Bamshad Michael J, Santos-Cortez Regie Lyn P, Leal Suzanne M, Ahmad Wasim

Abstract excerpt

BACKGROUND: Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susceptibility to infections but with no UV sensitivity. METHODS: We identified three consanguineous Pakistani families with varied TTDN features and used homozygosity mapping, linkage analysis, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26880286
DOI: 10.1186/s12881-016-0275-5
PMCID: PMC4754937

Genes

MPLKIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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