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Article

Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.

BMC medical genetics - 19 Sept 2014

Zhang Yanliang, Liu Yanhui, Li Ya, Duan Yong, Zhang Keyun, Wang Junwang, Dai Yong

Abstract excerpt

BACKGROUND: We report on two brothers with a distinct syndromic phenotype and explore the potential pathogenic cause. METHODS: Cytogenetic tests and exome sequencing were performed on the two brothers and their parents. Variants detected by exome sequencing were validated by Sanger sequencing. RESULTS: The main phenotype of the two brothers included congenital language disorder, growth retardation, intellectual...

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Share to ATP Binding Cassette Transporter, Subfamily D, Member 1
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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: 25234129
DOI: 10.1186/s12881-014-0105-6
PMCID: PMC4355004

Genes

DACH2
ABCD1

Variants

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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