Expanding the phenotype of STRA6‐related disorder to include left ventricular non‐compaction
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1377
Abstract: Syndromic microphthalmia‐9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. This disorder is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac… read more here.
Keywords: phenotype stra6; related disorder; disorder; stra6 related ... See more keywords
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2022.104496
Abstract: Pathogenic variants in the OFD1 gene have been classically associated with the Orofaciodigital syndrome type 1 in females, a condition previously considered to be X-linked dominant with male embryonic lethality. However, an increasing number of… read more here.
Keywords: phenotype males; case; report; expanding phenotype ... See more keywords
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2017.04.037
Abstract: Fil: Rossi, Malco Damian. Fundacion para la Lucha contra las Enfermedades Neurologicas de la Infancia; Argentina. Consejo Nacional de Investigaciones Cientificas y Tecnicas; Argentina read more here.
Keywords: phosphomannomutase gene; gene congenital; congenital disorder; disorder glycosylation ... See more keywords
MEGDEL Syndrome: Expanding the Phenotype and New Mutations.
Sign Up to like & getrecommendations! Published in 2017 at "Neuropediatrics"
DOI: 10.1055/s-0037-1602833
Abstract: 3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, neuroradiological evidence of Leigh-like disease (MEGDEL syndrome) was initially described in four children with additional features of defective oxidative phosphorylation. Loss of functional variants in the SERAC1 gene was later reported… read more here.
Keywords: new mutations; phenotype new; syndrome expanding; megdel syndrome ... See more keywords
Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature
Sign Up to like & getrecommendations! Published in 2017 at "Neuropediatrics"
DOI: 10.1055/s-0037-1603977
Abstract: Abstract Mutations in GNAO1 (guanine nucleotide‐binding protein, alpha‐activating activity polypeptide O) were recently identified as being causative for early epileptic encephalopathy. Since then approximately 27 patients with severe developmental delay and different neurological phenotypes for… read more here.
Keywords: phenotype; novo mutations; phenotype novo; gnao1 four ... See more keywords
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity
Sign Up to like & getrecommendations! Published in 2022 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2022.2089856
Abstract: Abstract We describe a Tunisian family carrier of the same rare mutation in TARDBP but developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic variability.… read more here.
Keywords: phenotype; tunisian family; tardbp; mutation ... See more keywords
Expanding the phenotype of ATP6AP1 deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006195
Abstract: Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that are involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an accessory subunit of the vacuolar… read more here.
Keywords: atp6ap1; expanding phenotype; atp6ap1 cdg; atp6ap1 deficiency ... See more keywords
Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Neurology"
DOI: 10.1111/ene.14013
Abstract: Congenital disorders of glycosylation (CDG) constitutes a rare group of inborn error of metabolism with myriad clinical presentation due to multisystem involvement. They are caused by mutations in the genes encoding for enzymes involved in… read more here.
Keywords: hyperkinetic movement; congenital disorders; disorders glycosylation; expanding phenotype ... See more keywords
Expanding the phenotype of Bardet–Biedl syndrome: Newly diagnosed sibling cases
Sign Up to like & getrecommendations! Published in 2020 at "Pediatrics International"
DOI: 10.1111/ped.14066
Abstract: prominent mucosal erythema and edema involving the antrum, duodenal bulb, and the second part of the duodenum. A biopsy from the antrum and the duodenum demonstrated prominent eosinophilic infiltration of the mucosa. The pathologic finding… read more here.
Keywords: index; bardet biedl; eosinophilic infiltration; phenotype bardet ... See more keywords
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13020276
Abstract: Background: Poirier–Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include… read more here.
Keywords: mutations csnk2b; poirier bienvenu; poirier; expanding phenotype ... See more keywords