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Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
Oyama N, Vaneynde P, Reynhout S, Pao EM, Timms A, Fan X, Foss K, Derua R, Janssens V, Chung W, Mirzaa GM. Oyama N, et al. J Med Genet. 2023 May;60(5):511-522. doi: 10.1136/jmg-2022-108713. Epub 2022 Oct 10. J Med Genet. 2023. PMID: 36216457
Common clinical phenotypes were language, intellectual or learning disabilities (80.6%), hypotonia (75.0%), macrocephaly (66.7%), seizures (45.8%) and autism spectrum disorder (26.4%). ...CONCLUSION: Our study delineates the most common features of PPP2R5D-re …
Common clinical phenotypes were language, intellectual or learning disabilities (80.6%), hypotonia (75.0%), macrocephaly (66.7%), …
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N, Mosallaei M, Beheshtian M, Khoshbakht S, Fadaee M, Vazehan R, Faraji Zonooz M, Karimzadeh P, Kahrizi K, Najmabadi H. Ehtesham N, et al. Arch Iran Med. 2022 Dec 1;25(12):788-797. doi: 10.34172/aim.2022.124. Arch Iran Med. 2022. PMID: 37543906 Free PMC article.
BACKGROUND: Ion channel dysfunction in the brain can lead to impairment of neuronal membranes and generate several neurological diseases, especially neurodevelopmental disorders. ...Electroencephalography abnormality (33.9%) was the major brain …
BACKGROUND: Ion channel dysfunction in the brain can lead to impairment of neuronal membranes and generate several neurological disea …
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.
Kjaergaard S, Schwartz M, Skovby F. Kjaergaard S, et al. Arch Dis Child. 2001 Sep;85(3):236-9. doi: 10.1136/adc.85.3.236. Arch Dis Child. 2001. PMID: 11517108 Free PMC article.
AIMS: To delineate common and variable features and outcome of children with congenital disorder of glycosylation type Ia (CDG-Ia) caused by the frequent R141H/F119L PMM2 genotype. ...RESULTS: All patients had an early presentation with severe feeding problems and f …
AIMS: To delineate common and variable features and outcome of children with congenital disorder of glycosylation type Ia (CDG …
Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.
Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N. Wigby K, et al. Am J Med Genet A. 2016 Nov;170(11):2870-2881. doi: 10.1002/ajmg.a.37688. Epub 2016 Sep 19. Am J Med Genet A. 2016. PMID: 27644018 Free PMC article.
Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental disorders (44.4%), seizure disorders (16.2%), genitourinary malformations (12.2%). ...However, prenatally diagnosed females …
Common physical features included hypertelorism, epicanthal folds, clinodactyly, and hypotonia. Medical problems included dental d …