Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review.

Szeto, Chun Ho; Rubin, Sarina; Sidlow, Richard

Szeto, Chun Ho; Rubin, Sarina; Sidlow, Richard.

Afiliação

Szeto CH; Medical School for International Health, Ben Gurion University of the Negev, Beer Sheva, ISR.
Rubin S; Medical School for International Health, Ben Gurion University of the Negev, Beer Sheva, ISR.
Sidlow R; Medical Genetics and Metabolism, Valley Children's Hospital, Madera, USA.

Cureus ; 15(5): e39226, 2023 May.

Article em En | MEDLINE | ID: mdl-37337484

Palavras-chave

exosc3; genotype-phenotype correlations; mendelian; neonatal hypotonia; neurodegenerative disorders; pediatric genetics; pediatric rare diseases; pontocerebellar hypoplasia; roma; spinal muscular atrophy (sma)

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article