Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes
Author:
Affiliation:
1. Interdepartmental Program “Autism 0‐90” “Gaetano Martino” University Hospital, University of Messina Messina Italy
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62222
Reference102 articles.
1. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion
2. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
3. Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
4. Variability in Phelan‐McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism
5. Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
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