Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism

J Hum Genet. 2018 Aug;63(8):859-861. doi: 10.1038/s10038-018-0476-1. Epub 2018 Jun 8.

Authors

Marcella Zollino¹, Paolo Niccolo' Doronzio²

Affiliations

¹ Institute of Genomic Medicine, Catholic University, A. Gemelli Foundation, Rome, Italy. [email protected].
² Institute of Genomic Medicine, Catholic University, A. Gemelli Foundation, Rome, Italy.

PMID: 29884796
DOI: 10.1038/s10038-018-0476-1

No abstract available

Publication types

Editorial

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Chromosome Deletion
Craniofacial Abnormalities / genetics*
Craniofacial Abnormalities / pathology
Growth Disorders / genetics*
Growth Disorders / pathology
Histone-Lysine N-Methyltransferase / genetics*
Humans
Intellectual Disability / genetics*
Intellectual Disability / pathology
Muscular Atrophy / genetics*
Muscular Atrophy / pathology
Mutation*
Phenotype
Repressor Proteins / genetics*
Wolf-Hirschhorn Syndrome / genetics*
Wolf-Hirschhorn Syndrome / pathology

Substances

Repressor Proteins
Histone-Lysine N-Methyltransferase
NSD2 protein, human

Supplementary concepts

Facial Dysmorphism with Multiple Malformations