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Article

Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate.

European journal of medical genetics - 1 Nov 2015

Stanghellini Ilaria, Dassi Erik, Bertorelli Roberto, De Sanctis Veronica, Caleffi Angela, Landi Antonio, Percesepe Antonio

Abstract excerpt

In the present study we describe the exome sequencing and analysis of a patient with Catel-Manzke-like phenotype showing bilateral hyperphalangism of the second finger and thumb clinodactyly due to a unilateral delta phalanx, associated with growth, cardiac and vertebral defects. The exome sequencing analysis excluded pathogenetic mutations in the genes known to cause syndromes with hyperphalangism and did not...

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Source

Identifiers

PMID: 26420031
DOI: 10.1016/j.ejmg.2015.09.010

Genes

DNAH10

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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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