Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.

Dubbs, Holly; Ortiz-Gonzalez, Xilma; Marsh, Eric D

Dubbs, Holly; Ortiz-Gonzalez, Xilma; Marsh, Eric D.

Affiliation

Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ortiz-Gonzalez X; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Marsh ED; Departments of Neurology and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Am J Med Genet A ; 188(9): 2617-2626, 2022 09.

Article in En | MEDLINE | ID: mdl-35670295

Subject(s)

Intellectual Disability; Cerebellum/abnormalities; Developmental Disabilities; Female; Genetic Association Studies; Guanylate Kinases/genetics; Humans; Intellectual Disability/genetics; Male; Mental Retardation, X-Linked; Microcephaly; Mutation; Nervous System Malformations; Phenotype

Key words

CASK; MICPCH; cerebellar hypoplasia

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States

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