Clinical variability at the mild end of BRAT1-related spectrum: evidence from two families with genotype-phenotype discordance.
Sign Up to like & getrecommendations! Published in 2021 at "Human mutation"
DOI: 10.1002/humu.24293
Abstract: Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) to neurodevelopmental disorder and cerebellar atrophy with or without seizures (NEDCAS),… read more here.
Keywords: clinical variability; brat1 related; genotype phenotype; two families ... See more keywords
Clinical variability in children with dolichoarteriopathies of the internal carotid artery
Sign Up to like & getrecommendations! Published in 2019 at "Child's Nervous System"
DOI: 10.1007/s00381-019-04395-7
Abstract: Introduction Dolichoarteriopathies of the internal carotid artery (DICA) are frequent non-atheromatous anatomical changes in the general population. The etiology of DICA is still controversial: several hypotheses have been suggested, including an anomaly of embryological development,… read more here.
Keywords: clinical variability; dolichoarteriopathies internal; carotid artery; dica ... See more keywords
Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0039-3400489
Abstract: Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder caused by a mosaic tetrasomy of chromosome 12p, which mainly manifests with craniofacial dysmorphism, intellectual disability (ID), auditory disturbance, epilepsy, and a variety of congenital malformations.… read more here.
Keywords: killian syndrome; clinical variability; variability pallister; pallister killian ... See more keywords
Clinical variability in multifocal lymphangioendotheliomatosis with thrombocytopenia: a review of the literature
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Hematology and Oncology"
DOI: 10.1080/08880018.2020.1871135
Abstract: Abstract Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is a recently recognized disorder characterized by vascular lesions marked by distinct endothelial proliferation. Lesions affect multiple tissues, and MLT can be associated with refractory thrombocytopenia resulting in life-threatening… read more here.
Keywords: clinical variability; thrombocytopenia; multifocal lymphangioendotheliomatosis; lymphangioendotheliomatosis thrombocytopenia ... See more keywords