Clinical and mutational spectrum of Mowat-Wilson syndrome.

doi:10.1016/j.ejmg.2005.01.003

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Article

Clinical and mutational spectrum of Mowat-Wilson syndrome.

European journal of medical genetics - 1 Jan 2000

Zweier Christiane, Thiel Christian T, Dufke Andreas, Crow Yanick J, Meinecke Peter, Suri Mohnish, Ala-Mello Sirpa, Beemer Frits, Bernasconi Sergio, Bianchi Paolo, Bier Andrea, Devriendt Koen, Dimitrov Boyan, Firth Helen, Gallagher Renata C, Garavelli Livia, Gillessen-Kaesbach Gabriele, Hudgins Louanne, Kääriäinen Helena, Karstens Susan, Krantz Ian, Mannhardt Anca, Medne Livija, Mücke Jürgen, Kibaek Maria, Krogh Lotte Nylandsted, Peippo Maarit, Rittinger Olaf, Schulz Solveig, Schelley Susan L, Temple I Karen, Dennis Nick R, Van der Knaap Marjo S, Wheeler Patricia, Yerushalmi Baruch, Zenker Martin, Seidel Heide, Lachmeijer A, Prescott Trine, Kraus Cornelia, Lowry R Brian, Rauch Anita

Abstract excerpt

Mowat-Wilson Syndrome is a recently delineated mental retardation syndrome usually associated with multiple malformations and a recognizable facial phenotype caused by defects of the transcriptional repressor ZFHX1B. To address the question of clinical and mutational variability, we analysed a large number of patients with suspected Mowat-Wilson Syndrome (MWS). Without prior knowledge of their mutational status,...

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Identifiers

PMID: 16053902
DOI: 10.1016/j.ejmg.2005.01.003

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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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