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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. (2023)

First Author: Loong L

Attributed to: MRC Centre for Neurodevelopmental Disorders funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2022.09.007

PubMed Identifier: 36322149

Publication URI: http://europepmc.org/abstract/MED/36322149

Type: Journal Article/Review

Volume: 25

Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics

Issue: 1

ISSN: 1098-3600