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Article

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.

American journal of medical genetics. Part A - 1 Sept 2018

Burnside Rachel D, Molinari Sharon, Botti Christina, Brooks Susan Sklower, Chung Wendy K, Mehta Lakshmi, Schwartz Stuart, Papenhausen Peter

Abstract excerpt

Interstitial deletions of the distal short arm of chromosome 2 including MYCN have only been reported for a small number of individuals. Germline deletions and mutations of MYCN cause Feingold syndrome 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, short stature, dysmorphic features, and intellectual disability. We present a series of six individuals referred...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30088856
DOI: 10.1002/ajmg.a.40355

Genes

MYCN
DDX1
NBAS

Provenance

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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Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.PMID 30088856Read ↗

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