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Article

[Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review].

Revista de neurologia - 1 May 2017

Blanco-Lago R, Malaga-Dieguez I, Granizo-Martinez J J, Carrera-Garcia L, Barruz-Galian P, Lapunzina P, Nevado-Blanco J, En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn

Abstract excerpt

INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that gives rise to multiple congenital anomalies, caused by the loss of a distal portion of the short arm of chromosome 4 (4p16.3). It is characterised by its own peculiar facial phenotype, associated to growth problems, psychomotor retardation and epilepsy. AIMS: To establish a register of patients with WHS in Spain, describe their...

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PMID: 28444681

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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