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Article

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.

European journal of medical genetics - 1 May 2021

Santoro Claudia, Riccio Simona, Palladino Federica, Aliberti Ferdinando, Carotenuto Marco, Zanobio Mariateresa, Peduto Cristina, Nigro Vincenzo, Perrotta Silverio, Piluso Giulio

Abstract excerpt

Concurrence of distinct genetic conditions in the same patient is not rare. Several cases involving neurofibromatosis type 1 (NF1) have recently been reported, indicating the need for more extensive molecular analysis when phenotypic features cannot be explained by a single gene mutation. Here, we describe the clinical presentation of a boy with a typical NF1 microdeletion syndrome complicated by cleft palate and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 33722742
DOI: 10.1016/j.ejmg.2021.104190

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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