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671 articles
June 202624
Severe ADEM-Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype.
Two sisters with the same paternally inherited germline CBL variant had markedly different presentations. The older, previously healthy 4-year-old developed rapidly progressive ADEM-like neuroinflammation after a…
Identification and functional characterization of a novel mutation in the NEUROD1 gene in a Chinese family with maturity-onset diabetes of the young.
Few families with maturity-onset diabetes of the young (MODY) caused by neurogenic differentiation factor 1 (NEUROD1) mutations have been identified.
Maturity onset diabetes of the young in pregnancy: management, treatment and neonatal outcomes-a systematic review.
This systematic review examined pregnancy management and neonatal outcomes across subtypes of maturity-onset diabetes of the young (MODY), using clinical studies identified through Cochrane, EMBASE and PubMed.
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.
This report details three novel cases of Cousin syndrome from two unrelated families, characterized by short stature, pelvi-scapular dysplasia, and craniofacial dysmorphism due to homozygous variants in the TBX15 gene.
An atypical RUNX1::ETV6::RUNX1 fusion in a pediatric patient with precursor B-cell acute lymphoblastic leukemia.
A 2-year-old male presented with precursor B-cell acute lymphoblastic leukemia (B-ALL) and was found to have an atypical RUNX1::ETV6::RUNX1 fusion.
Metachronous multiple insulinomas in oculo-facio-cardio-dental syndrome harboring a novel BCOR deletion: a case report with review of literature.
A female patient with genetically confirmed oculo-facio-cardio-dental (OFCD) syndrome, due to a novel BCOR deletion, presented with recurrent hypoglycemic episodes.
Somatic BRCA1 and BRCA2 detection in homologous recombination deficiency testing: concordance of four sequencing workflows with the Myriad myChoice companion diagnostic.
This multicenter study assessed agreement between four tumor sequencing workflows and the Myriad myChoice companion diagnostic for BRCA1/BRCA2 variant detection in newly diagnosed ovarian cancer.
Characterization of a novel α-thalassemia deletion (Dongxing deletion; -- DX ) by CNV-seq in a Chinese female with Hb H disease: a case report.
A Chinese female with α-thalassemia presented with a phenotype of Hb H disease, which was inconsistent with her initial genotype of -α 4.2/-α 4.2.
Diverse Trial Designs, Populations, and Outcomes: A Systematic Literature Review of Trials for the Treatment of Hereditary Angioedema Attacks.
This systematic literature review evaluated 12 phase 2-3 randomized clinical trials for on-demand treatments of hereditary angioedema (HAE) attacks.
Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia.
A child presented with severe congenital communicating hydrocephalus, Dandy-Walker malformation, cerebellar hypoplasia, and facial dysmorphism.
Prognostic prediction models for psoriatic arthritis in psoriasis: A systematic review.
This systematic review evaluated the predictive performance, risk of bias and reporting quality of models estimating psoriatic arthritis risk in people with psoriasis.
Severe neonatal epilepsy linked to a novel homozygous SLC12A5 Arg508Cys variant with impaired chloride transport.
The potassium-chloride cotransporter 2 (KCC2) is a neuron-specific transporter essential for maintaining low intracellular chloride levels.
A case of maturity-onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant.
A 21-year-old woman presented with early-onset diabetes and was diagnosed with maturity-onset diabetes of the young (MODY) due to a pathogenic HNF1A variant.
A Case of Familial Chylomicronemia Syndrome Caused by a Novel Homozygous GPIHBP1 Mutation Successfully Treated with the Selective PPARα Modulator Pemafibrate.
A 47-year-old woman with a history of familial chylomicronemia syndrome presented with severe epigastric pain due to acute pancreatitis from extreme hypertriglyceridemia.
Unexpected Voriconazole Overexposure in a CYP2C19 Rapid Metabolizer Due to Inflammation-Induced Phenoconversion: A Short Communication.
An adult patient on voriconazole exhibited significant drug overexposure despite being a CYP2C19 rapid metabolizer. Elevated voriconazole levels were noted alongside increased C-reactive protein, indicating a…
GWAS meta-analysis provides new insights into uveal melanoma risk.
This meta-analysis investigated germline genetic variants associated with uveal melanoma (UM) using data from nine studies comprising 5,839 UM cases and 349,863 healthy controls.
A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights and management pitfalls.
A male infant presented with a salt-wasting adrenal crisis indicative of X-linked adrenal hypoplasia congenita. Over time, he developed global developmental delay and sensorineural hearing loss, which is less commonly…
Splicing Alterations Associated with Multiple Homozygous TNXB Variants in a Patient with Suspected Classical-Like Ehlers-Danlos Syndrome.
A patient with generalized joint hypermobility, soft, pliable skin, recurrent elbow dislocations, orthostatic dizziness, chronic constipation, and mild mitral valve regurgitation was evaluated for suspected…
Identification and pathogenicity validation of a novel MLH1 frameshift mutation in Lynch syndrome pedigree.
Lynch syndrome (LS), the most prevalent hereditary colorectal cancer (CRC) syndrome, accounts for approximately 2 %-3 % of all CRC cases and confers a significantly elevated cancer risk among affected family members…
Variable Phenotype in Three Siblings With RAN Binding Protein 2 Variant With Potential Preventive Treatment for Recurrences.
This case series describes three siblings from a nonconsanguineous family, all with a pathogenic RANBP2 variant linked to familial acute necrotizing encephalopathy (ANE1).
Lonvoguran Ziclumeran - In Vivo CRISPR Gene Editing in Hereditary Angioedema.
This phase 3, multicenter, double-blind randomized trial evaluated a single intravenous infusion of lonvoguran ziclumeran, an investigational in vivo CRISPR gene-editing treatment, in patients aged 16 years or older…
Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant.
A female patient presented with well-controlled epilepsy and mild dysmorphic features, without the developmental impairment commonly described in DNM1 encephalopathy.
Synchronous Undifferentiated Embryonal Sarcoma of the Liver and Fibrolamellar Hepatocellular Carcinoma in a Patient with Adenosine Deaminase Deficiency.
A 7-year-old boy with adenosine deaminase deficiency presented with fever, elevated acute phase reactants, and a heterogeneous cystic liver mass measuring 85 × 60 mm on ultrasonography.
An ITGB4 variant modifies the severity of ITGA3-associated interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa (ILNEB).
Biallelic ITGA3 variants cause a rare subtype of junctional epidermolysis bullosa named interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa.
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