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Article

[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].

Clinical calcium - 1 Apr 2016

Imagawa Eri, Miyake Noriko, Matsumoto Naomichi

Abstract excerpt

Next-generation sequencing technologies enable comprehensive genetic analyses in monogenic and oligonenic diseases. Especially whole-exome sequencing(WES)targeting exonic regions of protein coding genes is mainly used for Mendelian diseases. Here we describe a case of Hand-foot-genital syndrome arising from a HOXA13 mutation[c.1102A>T(p.Ile368Phe)]as one of successful examples in our successful WES analyses.

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Source

Identifiers

PMID: 27013621
DOI: CliCa1604515523

Genes

HOXA13

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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