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671 articles
May 20263
Effectiveness and Safety of Setmelanotide in a Patient With a Heterozygous PCSK1 Deficiency.
A 40-year-old female with a heterozygous PCSK1 N221D variant presented with severe early-onset treatment-resistant obesity.
A Case of Short-Rib Thoracic Dysplasia: Diagnostic Clues in Early Pregnancy and Genetic Analysis.
A fetus was suspected of having short-rib thoracic dysplasia (SRTD) based on ultrasound findings at 13 weeks of gestation. Prenatal genetic testing identified a pathogenic variant in the DYNC2H1 gene.
New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutation.
Two Spanish children, aged 14 and 16, presented with nyctalopia and retinal findings consistent with fundus albipunctatus (FAP).
April 202621
Melioidosis: Burkholderia pseudomallei technical challenges in identification and susceptibility testing in a non-endemic area.
A 69-year-old man of Thai descent presented in Sydney, Australia, with a diagnosis of melioidosis. The identification of Burkholderia pseudomallei was complicated by a misreporting as B.
Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature Review.
This multicenter cross-sectional study examined 15 patients with Xia Gibbs Syndrome (XGS) due to heterozygous AHDC1 variants.
FGF12-Related Early-Onset Epileptic Encephalopathies: Therapeutic Response to Sodium Channel Blockers.
Developmental and epileptic encephalopathies (DEEs) comprise a clinically and genetically heterogeneous group of severe neurodevelopmental disorders, frequently caused by pathogenic variants in genes encoding neuronal…
Omics in hereditary optic neuropathies: A systematic review of clinical studies with an integrated point of view.
This systematic review examined the application of omics strategies in understanding hereditary optic neuropathies, focusing on 22 clinical studies.
A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.
A 40-year-old man presented with global developmental delay, intellectual disability, myoclonic epilepsy, and cerebellar ataxia.
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.
A 22-year-old male presented with an atypically mild form of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic.
An infant with Costello syndrome and a pathogenic HRAS variant presented with drug-refractory multifocal atrial tachycardia (MAT).
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.
An infant diagnosed with Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) exhibited severe cardiac dysfunction. Despite genome sequencing failing to identify pathogenic variants, RNA sequencing indicated reduced ETFB…
Early-Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency.
A Turkish male infant presented with developmental delay and hypotonia, progressing to refractory epilepsy and neurodevelopmental regression.
Cornelia de Lange syndrome in an extremely low birth weight infant: a case report.
An infant born by emergency cesarean delivery at 34 weeks and 1 day weighed 994 g (-3.7 SD score). Cornelia de Lange syndrome (CdLS) was suspected from dysmorphic findings including forehead and femoral hirsutism, cleft…
Tubulinopathy Case Series: Marked Intrafamilial Phenotypic Variability Associated With a Novel Missense TUBB Variant.
A family with a novel missense variant in the TUBB gene presented with significant intrafamilial phenotypic variability. The proband exhibited severe symptoms, including seizures and developmental delay from 6 months…
Unexpected Virilization in a Patient with Turner Syndrome with Unbalanced Y/7 Translocation in the Gonadal Tissue: Gonadoblastoma Diagnosis.
An 18-year-old girl with Turner syndrome presented with virilization at age 12, alongside short stature and severe intellectual disability.
Unusual presentation of cone dysfunction consequent upon a homozygous FAM161A variant.
A 20-year-old male presented with subnormal vision, photophobia, nystagmus, and loss of color vision. Fundus imaging revealed bilateral macular pigmentary mottling and mild retinal vascular attenuation.
A Case Report of I-Cell Disease (Mucolipidosis Type II) With a Novel Placental-Focused Diagnostic Approach.
A neonate was admitted to the NICU with respiratory distress and initial concern for infection. Placental examination showed vacuolization of syncytiotrophoblasts, with intracytoplasmic lipid vacuoles highlighted by Oil…
A Novel YY1AP1 Variant in Grange Syndrome: Clinical and Molecular Findings in Eight Individuals With a Dual Molecular Diagnosis Involving CLMP in One Patient.
This report describes eight individuals from a consanguineous family diagnosed with Grange syndrome, characterized by multiple fractures, bone fragility, and other systemic manifestations.
Biallelic Splicing Variant c.12479+3A>G in FAT4 Causes Hennekam Lymphangiectasia-Lymphedema Syndrome 2.
A 15-month-old male presented with peripheral lymphedema, facial dysmorphism, camptodactyly, and generalized hypotonia. Genetic testing identified a homozygous splice site variant, c.12479+3A>G, in the FAT4 gene…
A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings.
Two non-consanguineous Chinese male siblings presented with severe rod-cone dystrophy (RCD) at ages 7 and 42. Clinical examination, multimodal imaging, and electroretinogram confirmed the diagnosis.
Dual FDG and Octreotide PET/CT Imaging in a Patient With Malignant Pheochromocytoma and VHL Gene Mutation.
A 59-year-old woman with a history of recurrent pheochromocytoma underwent 18 F-FDG and 18 F-octreotide PET/CT to evaluate metastatic disease following progression on targeted therapy.
Radial lattice degenerations and foveal hypoplasia: Late diagnosis of Stickler syndrome in a patient without high myopia.
A 39-year-old woman with unclassified bone-muscle dysplasia and no previous ocular history presented with floaters. Examination showed radial lattice degeneration in both eyes, and optical coherence tomography…
Are There Any Effective Behavior Change Strategies for Communicating Genetic Risk in Obesity Prevention and Body Weight Reduction Interventions?
This preregistered systematic review assessed whether intervention components influence the effects of genetic risk communication on obesity-related outcomes.
A novel multimorbidity: co-occurrence of neonatal diabetes mellitus and leukocyte adhesion deficiency type 1 in two siblings.
Two sisters born to consanguineous parents had permanent neonatal diabetes mellitus and leukocyte adhesion deficiency type 1 (LAD-1). Both carried homozygous variants in the INS promoter (c.-331C>G) and ITGB2 (c.388T>C).
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