Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?-Reference-Cited by-同舟云学术

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Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?

Published:2010-08-20 Issue:9 Volume:152A Page:2268-2276
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Graham John M.,Spencer Andrew H.,Grinberg Inessa,Niesen Charles E.,Platt Lawrence D.,Maya Marcel,Namavar Yasmin,Baas Frank,Dobyns William B.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Two cases of pontocerebellar hypoplasia: Ethical and prenatal diagnostic dilemma;Ajibola;Am J Perinatol,2010

2. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset;Barth;Brain Dev,1993

3. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): Compiled data from 10 pedigrees;Barth;Neurology,1995

4. Pontocerebellar hypoplasia type 2: A neuropathological update;Barth;Acta Neuropathol,2007

5. Cerebellum-small brain but large confusion: A review of selected cerebellar malformations and disruptions;Boltshauser;Am J Med Genet Part A,2004

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1. A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report;Frontiers in Pediatrics;2024-02-23

2. Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up;Prenatal Diagnosis;2024-01

3. Childhood spinal muscular atrophy;Handbook of Clinical Neurology;2023

4. Expanding the natural history of CASK ‐related disorders to the prenatal period;Developmental Medicine & Child Neurology;2022-09-29

5. TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 in a Newborn with Refractory Myoclonic Seizures;Annals of Child Neurology;2022-07-01

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