Results 31 to 40 of about 442,293 (268)
Parkinson-ALS with a novel MAPT variant
Neurological Sciences, 2023 AbstractThe mutations on microtubule associated protein tau (MAPT) gene manifest clinically with behavioural frontotemporal dementia (FTD), parkinsonism, such as progressive supranuclear palsy and corticobasal degeneration, and rarely with amyotrophic lateral sclerosis (ALS).
Ferrari, Camilla +8 more
openaire +2 more sources
Case Report: Aplastic anemia related to a novel CTLA4 variant
Frontiers in PediatricsA 20-year-old male patient with a history of celiac disease came to medical attention after developing profound fatigue and pancytopenia. Evaluation demonstrated pan-hypogammaglobulinemia. There was no history of significant clinical infections.
Geoffrey Hall +9 more
doaj +1 more source
A NovelSHOC2Variant in Rasopathy [PDF]
Human Mutation, 2014 Rasopathies are a group of genetic disorders caused by germline mutations in multiple genes of the Extracellular signal-Regulated Kinases 1 and 2 (ERK1/2) pathway. The only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair.
Vickie, Hannig +4 more
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks +5 more
wiley +1 more source
Case Report: Profound newborn leukopenia related to a novel RAC2 variant
Frontiers in PediatricsWe report the case of a 1-week-old male born full-term, who had two inconclusive severe combined immunodeficiency (SCID) newborn screens and developed scalp cellulitis and Escherichia coli bacteremia.
Geoffrey Hall +10 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2022 Background Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism.
Seyedeh Helia Sadat Fatemi +3 more
doaj +1 more source
Novel variant of common variable immunodeficiency [PDF]
BMJ Case Reports, 2017 A 57-year-old woman with frequent respiratory infections was initially diagnosed with IgG subclass deficiency based on low levels of IgG subclasses 2 and 3. Three years later, she progressed to having IgA deficiency as well. With a normal total IgG level, she does not meet criteria for common variable immunodeficiency (CVID).
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Cup‐like nuclei are a distinctive morphological feature observed in certain cases of acute lymphoblastic leukemia (ALL). We provide evidence that they characterize DUX4/ERG ALL independently of IKZF1 deletion and reveal marked mitochondrial accumulation in this ALL subset.
Chloé Arfeuille +9 more
wiley +1 more source
Novel Gene Mutation Variant in Hypomyelinating Leukodystrophy-8: A Case Report
Medical Journal of Dr. D.Y. Patil VidyapeethThe incidence of hypomyelinating leukodystrophies is approximately 1 in every 250,000–500,000 individuals in the population. Hypomyelinating leukodystrophy-8 (HLD-8) is characterized by classical clinical features, including modest intellectual deficits ...
Shalesh Rohatgi +4 more
doaj +1 more source
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2
Biomedical Papers, 2017 Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours.
Andrea Petrovicova +10 more
doaj +1 more source