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Article

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

Archives of dermatology - 1 May 2005

Kellermayer Richard, Siitonen H Annika, Hadzsiev Kinga, Kestilä Marjo, Kosztolányi György

Abstract excerpt

BACKGROUND: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome (RAdial hypoplasia/aplasia, PAtellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size [>2 SDs below the mean in height] and LImb malformation, and slender NOse and NOrmal...

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Source

Identifiers

PMID: 15897384
DOI: 10.1001/archderm.141.5.617

Genes

RECQL4

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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