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Article

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.

Dermatology (Basel, Switzerland) - 1 Jan 2013

Fradin M, Merklen-Djafri C, Perrigouard C, Aral B, Muller J, Stoetzel C, Frouin E, Flori E, Doray B, Dollfus H, Lipsker D

Abstract excerpt

The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS), is described. Molecular studies confirmed the presence of two different mutations, c.2767_2768delTT and c.3061C>T, in the RECQL4 gene. This gene is known to be causative of a spectrum including Baller-Gerold syndrome, RAPADILINO syndrome and RTS. New and rare features such as oral...

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Identifiers

PMID: 23899764
DOI: 10.1159/000351311

Genes

RECQL4

Variants

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