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671 articles
June 202617
Blue cone monochromacy with parafoveal hyperautofluorescent ring caused by a novel OPN1LW p.Ile109Asn variant.
A 12-year-old boy presented with reduced visual acuity and a parafoveal hyperautofluorescent ring on fundus autofluorescence, initially suspected to have CRX-related maculopathy.
A 73-Year-Old Man With Eruptive Pruritic Brown Papules.
A 73-year-old man presented with a year-long, progressively spreading pruritic eruption on his lower extremities and forearms. Examination showed brown verrucous papules merging into plaques.
Geleophysical dysplasia associated with FBN1 variants and phenotypic variability: A case series in Argentine children.
A series of children followed at a pediatric hospital had FBN1-associated geleophysical skeletal dysplasia. All had severe short stature and short limbs.
Oligogenic variants in NEK1 and ATXN2 in amyotrophic lateral sclerosis: report of two cases and review of the literature.
Two siblings with amyotrophic lateral sclerosis (ALS) were found to carry both a heterozygous ATXN2 32 CAG repeat expansion and a novel heterozygous NEK1 c.1674_1677dup variant.
Bilateral Striatal Hypometabolism on FDG PET in a Patient With McLeod Syndrome.
A 59-year-old man presented with progressive chorea, cognitive decline, peripheral neuropathy, and elevated creatine kinase levels.
Correcting photoreceptor diseases at their source: CRISPR strategies for cone-rod dystrophy and achromatopsia.
This systematic review evaluates CRISPR/Cas9 strategies for treating cone-rod dystrophy (CORD) and achromatopsia (ACHM) by analyzing preclinical studies.
Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease.
Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset.
Effects of Fluoxetine on Cognitive Functioning in Children with Down Syndrome: A Prospective Open-Label Exploratory Study of Safety and Efficacy.
This phase I open-label study evaluated the safety and efficacy of fluoxetine in 14 children with Down syndrome, aged 6-10 years. Over 12 months, fluoxetine was found to be safe, with no serious adverse events reported.
Oculomotor dysfunction with unremarkable neuroimaging: a diagnostic clue to Gerstmann-Sträussler-Scheinker syndrome.
A 56-year-old woman presented with progressive gait instability, dizziness, and speech difficulties. Initial genetic screening for common spinocerebellar ataxia subtypes was negative, and neuroimaging showed no…
TTC19 and FMNL2 gene variants in a pediatric case of mitochondrial disorder with renal tubular acidosis.
A pediatric patient presented with developmental delay, failure to thrive, lactic acidosis, and distal renal tubular acidosis, raising suspicion for a mitochondrial disorder.
Prenatal Ultrasonographic Detection of Bilateral Congenital Cataracts With Concurrent Mosaic Turner Syndrome: A Case Report.
A woman with a history of cataracts presented for prenatal ultrasound at 22 weeks gestation, where bilateral congenital cataracts were detected.
Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report.
A 5-year-old boy had hypotonia, progressive weakness with head drop, cognitive delay, and visual impairment. Neuroimaging showed white matter abnormalities and atrophy of the corpus callosum and cerebellum.
Functional Ovarian Tissue in a Child With Mosaic Turner Syndrome and Y Chromosome Material: Case Report.
An 8-year-old girl with mosaic Turner syndrome and Y chromosome material presented with declining anti-müllerian hormone levels, indicating reduced ovarian reserve.
FLNC Complex Structural Variant Causing Distal Myopathy Identified by Family-Based Genome Sequencing.
Distal myopathies (DM) are clinically and genetically heterogeneous neuromuscular disorders, and identifying a molecular genetic cause may remain challenging in a subset of cases.
Papillary-Predominant FLCN -Mutated Renal Epithelial Neoplasm in Birt-Hogg-Dubé Syndrome.
A 79-year-old woman with Birt-Hogg-Dubé syndrome and a pathogenic germline FLCN frameshift mutation presented with bilateral renal masses and underwent right partial nephrectomy.
Association of the angiotensin II type 1 receptor A1166C polymorphism with essential hypertension in the Chinese population: a meta-analysis with ethnic and geographic subgroup analyses.
This meta-analysis examined the association between the AT1R A1166C polymorphism and essential hypertension (EH) in the Chinese population, analyzing data from 17 studies with 9,213 patients and 4,494 controls.
PUS7 Deficiency: Phenotypical Expansion of PUS7-Related Neurodevelopmental Disorders.
The report describes a patient with a homozygous pathogenic variant in PUS7, a gene associated with a neurodevelopmental disorder. The authors also reviewed published cases from 2018 to 2025.
May 20267
Evaluation of a pantoprazole and 4-desmethylpantoprazole-sulfate metabolic ratio as a novel CYP2C19 phenotyping method.
This randomized controlled trial evaluated pantoprazole as a novel phenotyping method for CYP2C19 in 20 healthy participants.
Percc1-Associated Congenital Diarrhea and Enteropathy: Description of a Novel Variant.
An infant diagnosed at 2 months of age had congenital diarrhea and enteropathy associated with a novel homozygous PERCC1 variant, c.337 del, in exon 2.
Lethal Suspected DICER1 Syndrome Spectrum in Neonate with CPAM Type IV/Type I PPB, Genitourinary Abnormalities, and CNS Embryonal Tumor with Multilayered Rosettes.
A premature neonate, aged 8 days, had been diagnosed prenatally with renal and cystic lung abnormalities and died from severe respiratory dysfunction.
GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia.
A 2-year-old boy presented with multiple congenital anomalies, including pulmonary valve stenosis, atrial septal defects, hypospadias, bifid scrotum, bilateral inguinal hernia, and congenital diaphragmatic hernia.
A homozygous splicing mutation in CCDC39 caused multiple morphological abnormalities of the flagella in an infertile man with primary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is a severe sperm defect, leading to male infertility. PCD affects both respiratory function and sperm motility, as motile cilia and sperm flagella rely on axonemal architecture.
A Novel Splice Site Mutation in the RASA1 Gene Causing Rare Diffuse Gastrointestinal Vascular Malformations: A Case Report and Literature Review.
A 29-year-old man with intermittent hematochezia had diffuse vascular malformations involving the stomach and small bowel on contrast-enhanced CT, double-balloon enteroscopy, and superior mesenteric angiography.
Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum.
Three individuals presented with mosaic hypopigmentation along Blaschko's lines, some exhibiting neurodevelopmental features. Deep next-generation sequencing of skin biopsies revealed postzygotic ACTB variants.
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