A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review
Author:
Publisher
Cureus, Inc.
Subject
Aerospace Engineering
Reference8 articles.
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2. What's new in pontocerebellar hypoplasia? An update on genes and subtypes;van Dijk T;Orphanet J Rare Dis,2018
3. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations;Eggens VR;Orphanet J Rare Dis,2014
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5. Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family;van Dijk T;Brain,2017
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1. Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review;BMC Medical Genomics;2024-02-13
2. Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review;Clinical Genetics;2023-11-06
3. No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B;Clinical Case Reports;2023-05
4. Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report;American Journal of Medical Genetics Part A;2023-04-06
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