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Article

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

American journal of medical genetics. Part A - 1 Sept 2016

Niederhoffer Karen Y, Fahiminiya Somayyeh, Eydoux Patrice, Mawson John, Nishimura Gen, Jerome-Majewska Loydie A, Patel Millan S

Abstract excerpt

Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome), Schwartz-Jampel syndrome, Freeman-Sheldon syndrome, Cerebro-oculo-facio-skeletal syndrome, and Van den Ende-Gupta syndrome. We discuss this...

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Identifiers

PMID: 27375131
DOI: 10.1002/ajmg.a.37831

Genes

DGCR2
NCAM2
SCARF2

Variants

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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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