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Quoted phrase not found in phrase index: "X-linked intellectual disability-cerebellar hypoplasia syndrome"
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ATR-X syndrome: genetics, clinical spectrum, and management.
León NY, Harley VR. León NY, et al. Hum Genet. 2021 Dec;140(12):1625-1634. doi: 10.1007/s00439-021-02361-5. Epub 2021 Sep 15. Hum Genet. 2021. PMID: 34524523
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalie …
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominant …
Eye and ocular adnexa manifestations of MED12-related disorders.
Shah A, Bapna M, Al-Saif H, Li R, Couser NL. Shah A, et al. Ophthalmic Genet. 2022 Feb;43(1):126-129. doi: 10.1080/13816810.2021.1989601. Epub 2021 Oct 20. Ophthalmic Genet. 2022. PMID: 34670449
BACKGROUND: MED12-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of MED12-related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns …
BACKGROUND: MED12-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic cha …
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
Della Vecchia S, Lopergolo D, Trovato R, Pasquariello R, Ferrari AR, Bartolini E. Della Vecchia S, et al. Seizure. 2023 Jan;104:32-37. doi: 10.1016/j.seizure.2022.11.014. Epub 2022 Nov 29. Seizure. 2023. PMID: 36476360 Free article.
BACKGROUND: Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental delay/intellectual disability, somatic dysmorphisms, behavioural disorder, ataxia/tremors. ...PURPOSE: This study aims to expand kno …
BACKGROUND: Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental …