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Article

Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 May 2008

Sasso Antun, Paucić-Kirincić Ela, Kamber-Makek Silvija, Sindicić Nada, Brajnović-Zaputović S, Brajenović-Milić Bojana

Abstract excerpt

INTRODUCTION: Mowat-Wilson syndrome is a congenital syndrome caused by a defect of the transcriptional repressor ZFHX1B (SIP1) gene on the chromosome 2q22-q23. The genotype-phenotype analysis confirmed that ZFHX1B deletions and mutations result in a recognizable facial dysmorphism with a multiple congenital anomaly and mental retardation. CASE REPORT: This report is about one new patient from Croatia with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18259761
DOI: 10.1007/s00381-007-0557-5

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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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