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Article

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

BMC medical genetics - 24 Jun 2014

Schuster Jens, Khan Tahir Naeem, Tariq Muhammad, Shaiq Pakeeza Arzoo, Mäbert Katrin, Baig Shahid Mahmood, Klar Joakim

Abstract excerpt

BACKGROUND: Exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical information is limited or unspecific as well as in cases of genetic heterogeneity. METHODS: We identified a consanguineous Pakistani family segregating an autosomal recessive phenotype characterized by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24961962
DOI: 10.1186/1471-2350-15-71
PMCID: PMC4076434

Genes

BSCL2

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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