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Article

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.

Italian journal of pediatrics - 12 May 2022

Wiel Luisa Cortellazzo, Bruno Irene, Barbi Egidio, Sirchia Fabio

Abstract excerpt

BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a well-defined disorder, whose core phenotype encompasses growth restriction, facial gestalt, intellectual disability and seizures. Nevertheless, great phenotypic variability exists due to the variable extent of the responsible 4p deletion. In addition, exome sequencing analyses, recently identified two genes, namely NSD2 and NELFA, whose loss-of-function variants...

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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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Identifiers

PMID: 35550183
DOI: 10.1186/s13052-022-01267-w
PMCID: PMC9097050

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