WebNM_000051.4 (ATM):c.4388T>G (p.Phe1463Cys) AND Ataxia-telangiectasia syndrome - ClinVar - NCBI NM_000051.4 (ATM):c.4388T>G (p.Phe1463Cys) AND Ataxia-telangiectasia syndrome Clinical significance: Conflicting interpretations of pathogenicity, Uncertain significance (1); Benign (1); Likely benign (2) (Last evaluated: Nov 3, 2024) … WebLa ataxia telangiectasia (AT) es una enfermedad hereditaria que se manifiesta en la niñez con deficiencia de la inmunidad y degeneración en la parte del cerebro que controla los movimientos y el habla. [1] Se caracteriza por signos neurológicos, telangiectasia, susceptibilidad a las infecciones y riesgo mayor de cáncer. [2] Las alteraciones …

Radioresistant DNA synthesis in SV40-immortalized ataxia telangiectasia ...

WebOct 27, 2016 · Clinical characteristics: Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, … WebAtaxia-telangiectasia (A-T) is a rare genetic condition that affects the function of the nervous system, the immune system and several other body systems. Defining … hotel di kaliurang jogja

Ataxia-telangiectasia: MedlinePlus Genetics

WebAtaxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing … WebResults: Of the 32 patients, 97% had ocular telangiectasia, the hallmark of the disease. Telangiectasia on other body parts was less frequent. Pigmentary anomalies included café-au-lait macules (84%), hypopigmented macules (44%), and melanocytic nevi (37%). A facial papulosquamous rash was found in 41% of cases. WebNational Center for Biotechnology Information fehérvár travel hivatalos honlapja