Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6138
Abstract: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of… read more here.
Keywords: novel mutation; raine syndrome; mutation review; syndrome report ... See more keywords
First report of a novel goose astrovirus outbreak in Muscovy ducklings in China
Sign Up to like & getrecommendations! Published in 2021 at "Poultry Science"
DOI: 10.1016/j.psj.2021.101407
Abstract: A highly acute disease characterized as visceral gout broke out in Muscovy ducklings in Henan province (China) in June 2020, with a mortality rate of up to 61%. In this study, common pathogenic agents were… read more here.
Keywords: novel goose; report novel; goose astrovirus; muscovy ducklings ... See more keywords
Brief Report on a Novel Reconstruction Technique Following Pancreaticoduodenectomy
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Surgery"
DOI: 10.1097/as9.0000000000000055
Abstract: Mini-abstract: Although pancreaticoduodenectomy (PD) has significantly improved and is considered a safe procedure, it is still associated with increased rates of morbidity. The aim of the present study is to evaluate an alternative reconstruction technique… read more here.
Keywords: brief report; reconstruction technique; report novel; technique ... See more keywords
ARL2BP mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12909
Abstract: We report a novel ARL2BP splice site mutation after whole-exome sequencing (WES) applied to a Moroccan family including two sisters affected with autosomal recessive rod-cone dystrophy (arRCD). Subsequent analysis of 844 index cases did not… read more here.
Keywords: splice; report novel; autosomal recessive; rod cone ... See more keywords
Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1004598
Abstract: Background: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, is a rare autosomal recessive disorder characterized by impaired ornithine transport across the inner mitochondrial membrane. HHH is caused by biallelic disease-causing variants in the SLC25A15 gene. The clinical presentation of… read more here.
Keywords: clinical heterogeneity; slc25a15 gene; hyperammonemia homocitrullinuria; hyperornithinemia hyperammonemia ... See more keywords
Case report: Novel variants in RELA associated with familial Behcet’s-like disease
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2023.1127085
Abstract: RELA haploinsufficiency is a recently described autoinflammatory condition presenting with intermittent fevers and mucocutaneous ulcerations. The RELA gene encodes the p65 protein, one of five NF-κB family transcription factors. As RELA is an essential regulator… read more here.
Keywords: case report; disease; rela associated; report novel ... See more keywords
Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.909715
Abstract: Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant in two… read more here.
Keywords: two egyptian; egyptian siblings; congenital myasthenic; variant ... See more keywords
Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.1064817
Abstract: Neurotrophic tyrosine receptor kinase (NTRK) rearrangements are oncogenic drivers of various types of adult and pediatric tumors, including gliomas. However, NTRK rearrangements are extremely rare in glioneuronal tumors. Here, we report a novel NTRK2 rearrangement… read more here.
Keywords: fusion; lhfpl3 ntrk2; dysembryoplastic neuroepithelial; report novel ... See more keywords
Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2023.1098876
Abstract: Dyskeratosis congenita (DKC), also known as Zinsser–Cole–Engman syndrome, is a telomeropathy typically presenting as a triad of leukoplakia, nail dystrophy, and reticular hyperpigmentation. Reported genetic mutations linked to DKC include DKC1, TINF2, TERC, TERT, C16orf57,… read more here.
Keywords: dyskeratosis congenita; report novel; dkc; gene ... See more keywords
Erratum: Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Postgraduate Medicine"
DOI: 10.4103/0022-3859.169758
Abstract: [This corrects the article DOI: 10.4103/0022-3859.138826]. read more here.
Keywords: clinical report; chanarin dorfman; erratum chanarin; dorfman syndrome ... See more keywords