RFC1‐Related Disorder: In Vivo Evaluation of Spinal Cord Damage
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29169
Abstract: RFC1‐related disorder is a novel heredodegenerative condition with a broad phenotypic spectrum. Its neuropathological bases are not yet fully understood, particularly regarding the pattern, extent, and clinical relevance of spinal cord (SC) damage. read more here.
Keywords: related disorder; rfc1 related; cord damage; spinal cord ... See more keywords
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
BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.104007
Abstract: The product of the BCL11B (B-Cell Leukemia 11) gene is a bi-functional transcriptional regulator that can act as either a repressor or an activator. It plays an important role in the development of the nervous,… read more here.
Keywords: related disorder; clinical phenotype; bcl11b; disorder ... See more keywords
Building platelet phenotypes: diaphanous-related formin 1 (DIAPH1)-related disorder.
Sign Up to like & getrecommendations! Published in 2021 at "Platelets"
DOI: 10.1080/09537104.2021.1937593
Abstract: Variants of the Diaphanous-Related Formin 1 (DIAPH-1) gene have recently been reported causing inherited macrothrombocytopenia. The essential/"diagnostic" characteristics associated with the disorder are emerging; however, robust and complete criteria are not established. Here, we report… read more here.
Keywords: related disorder; diaph1 related; disorder; related formin ... See more keywords
A cross-sectional study of the neuropsychiatric phenotype of CACNA1C-related disorder
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric neurology"
DOI: 10.1101/2022.06.22.22276784
Abstract: CACNA1C encodes the voltage gated L-type calcium channel CaV1.2. A specific gain of function pathogenic variant in CACNA1C causes Timothy syndrome type 1 (TS1) with cardiac long QT syndrome, syndactyly, and neuropsychiatric symptoms. Recent case… read more here.
Keywords: phenotype; cacna1c related; related disorder; neuropsychiatric symptoms ... See more keywords
Individuals with a vestibular‐related disorder use a somatosensory‐dominant strategy for postural orientation after inclined stance
Sign Up to like & getrecommendations! Published in 2017 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.12658
Abstract: The visual, somatosensory, and vestibular systems are critical for establishing a sensorimotor set for postural control and orientation. The goal of this study was to assess how individuals with a vestibular‐related disorder keep their balance… read more here.
Keywords: inclined stance; related disorder; somatosensory; stance ... See more keywords
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord
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DOI: 10.1111/cge.14248
Abstract: ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal patterning and osteogenic and myogenic processes. Pathogenic variants in ZC4H2 have been associated… read more here.
Keywords: tethered cord; related disorder; variant; zc4h2 ... See more keywords
Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder
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DOI: 10.1111/cge.14275
Abstract: Pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. Here, we describe four additional unrelated patients with biallelic variants in CWF19L1 (age range:… read more here.
Keywords: related disorder; spectrum; expansion phenotypic; cwf19l1 related ... See more keywords
Neurodevelopmental profile of HIVEP2-related disorder.
Sign Up to like & getrecommendations! Published in 2021 at "Developmental medicine and child neurology"
DOI: 10.1111/dmcn.15100
Abstract: AIM To characterize the neurodevelopmental profile and systemic features of HIVEP2-related disorder. METHOD This study used retrospective medical history and standardized assessment data from Simons Searchlight to describe the clinical characteristics of 12 individuals (eight… read more here.
Keywords: neurodevelopmental profile; disorder; related disorder; hivep2 related ... See more keywords
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108677
Abstract: The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins are involved… read more here.
Keywords: related disorder; truncating variant; protein truncating; trappc2l related ... See more keywords
Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000612
Abstract: Objective To investigate the molecular basis of muscle disease and gnathodiaphyseal dysplasia (GDD) in a large kindred with 11 (6 women and 5 men) affected family members. Methods We performed clinical assessment of 3 patients… read more here.
Keywords: gnathodiaphyseal dysplasia; related disorder; muscle; ano5 related ... See more keywords