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Article

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

American journal of medical genetics. Part A - 1 Sept 2013

Carrascosa-Romero María Carmen, Suela Javier, Pardal-Fernández José Manuel, Bermejo-Sánchez Eva, Vidal-Company Alberto, MacDonald Alexandra, Tébar-Gil Roque, Martínez-Fernández María Luisa, Martínez-Frías María Luisa

Abstract excerpt

We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long-term follow-up allowed us to monitor the evolution of the phenotype in this patient, and among the main findings we highlight the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23894067
DOI: 10.1002/ajmg.a.35862

Genes

RUNX1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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