Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103868
Abstract: Pathogenic variants in NKX6-2 gene causing autosomal recessive spastic ataxia type 8 with hypomyelinating leukodystrophy have been reported in few families around the world. In this study, we performed Whole Exome Sequencing and identified a… read more here.
Keywords: ataxia type; spastic ataxia; expanding clinical; nkx6 related ... See more keywords
Expanding the clinical spectrum of idiopathic intracranial hypertension
Sign Up to like & getrecommendations! Published in 2022 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000001131
Abstract: Purpose of review Idiopathic intracranial hypertension (IIH) is a disorder of raised intracranial pressure (ICP). Although the majority of patients with IIH present classically with headache and papilledema, some patients may have unusual presentations or… read more here.
Keywords: iih; expanding clinical; clinical spectrum; intracranial hypertension ... See more keywords
Expanding the clinical picture of the MECP2 Duplication syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12814
Abstract: Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and… read more here.
Keywords: mecp2 duplication; expanding clinical; duplication; duplication syndrome ... See more keywords
Bi-allelic variants in MDH2: expanding the clinical phenotype.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical genetics"
DOI: 10.1111/cge.14088
Abstract: Bi-allelic alterations in the MDH2 gene have recently been reported in three unrelated toddlers with early-onset severe encephalopathy. Here we describe a new case of a child carrying novel variants in MDH2. This child presented… read more here.
Keywords: mdh2 expanding; expanding clinical; clinical phenotype; variants mdh2 ... See more keywords
Expanding the clinical spectrum of dermal hyperneury: report of nine new cases and a review of the literature
Sign Up to like & getrecommendations! Published in 2019 at "Histopathology"
DOI: 10.1111/his.13941
Abstract: Dermal hyperneury is defined as the hypertrophy of small nerves in the dermis. It has been described in a variety of settings. We present a series of nine new cases with a distinctive clinical presentation… read more here.
Keywords: nine new; literature; expanding clinical; dermal hyperneury ... See more keywords
Expanding the Clinical Phenotype of Emerinopathies: Atrial Standstill and Left Ventricular Noncompaction.
Sign Up to like & getrecommendations! Published in 2020 at "Circulation: Arrhythmia and Electrophysiology"
DOI: 10.1161/circep.120.009338
Abstract: EMD (emerin) is a nuclear membrane protein and member of the nuclear lamina-associated protein family, which includes LMNA (lamin A). Together these proteins serve as the main structural framework of nuclei in mammalian cells. Among… read more here.
Keywords: emerinopathies atrial; phenotype emerinopathies; clinical phenotype; expanding clinical ... See more keywords
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Sign Up to like & getrecommendations! Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0641-1
Abstract: BackgroundHeterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to… read more here.
Keywords: dominant optic; opa1 mutations; expanding clinical; atrophy expanding ... See more keywords
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Genes"
DOI: 10.3390/genes10020135
Abstract: Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and… read more here.
Keywords: expanding clinical; classical like; danlos syndrome; clinical mutational ... See more keywords