Article

Expanding the MYCN Variant Spectrum in Feingold Syndrome Type 1: A Novel N-Terminal Missense Variant Segregating in an Affected Family

2026-03-31

Abstract excerpt

This study reports a previously unrecognized heterozygous MYCN missense variant, c.454G>A (p.Ala152Thr), identified in a child and two affected relatives with clinical findings consistent with Feingold syndrome type 1, an autosomal dominant developmental disorder most commonly caused by loss-of-function variants in MYCN. The proband presented with cleft palate, craniofacial dysmorphism, feeding difficulties, hy...

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Literature Corpus work: 67b0ea29-9af2-5647-9adb-6d5f991a2f4e
DOI: 10.20944/preprints202603.2500.v1

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