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512 articles
April 20264
Systematic Review and Meta-analysis on the Prevalence of Common Hemoglobinopathies in India.
This systematic review and meta-analysis estimated the prevalence and distribution of common hemoglobinopathies across demographic groups in India.
Expanding the Phenotype of TLK2-Related Neurodevelopmental Disorder: Longitudinal Presentation in Two Young Adult Females.
Two unrelated young adult females with truncating heterozygous TLK2 variants had developmental delay, neurobehavioral abnormalities, and constipation beginning in infancy.
Preemptive hematopoietic stem cell transplantation in RUNX1 familial platelet disorder: a shared decision-making framework.
An individual with RUNX1 familial platelet disorder (RUNX1-FPD) and a family history of hematologic malignancy underwent allogeneic hematopoietic stem cell transplantation (HSCT) before overt malignancy developed.
Histomorphological Features of a Liver Explant From an Adult With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Case Report and Literature Review.
A woman in her early twenties with genetically confirmed arthrogryposis-renal dysfunction-cholestasis syndrome, carrying compound heterozygous VPS33B mutations, developed progressive liver dysfunction and…
March 202613
Ophthalmological phenotype associated with biallelic CPAMD8 variants: first report in Mexican patients.
Two unrelated Mexican patients with anterior segment dysgenesis had bilateral iris hypoplasia, ectropion uveae, zonular anomalies, and secondary childhood glaucoma.
Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants.
Two siblings were evaluated for bull’s eye maculopathy. Multimodal retinal imaging showed the macular finding, while full-field electroretinography and structural assessment found no functional or anatomic evidence of…
Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.
A six-month-old girl with Coffin-Siris syndrome type 1 presented with tearing from both eyes and light sensitivity. Examination showed megalocornea, right inferior corneal edema, elevated intraocular pressure, increased…
A novel case of Heimler syndrome in a young child with compound heterozygous PEX26 mutations: clinical and genetic insights with literature review.
A male infant born at 36 weeks had congenital bilateral sensorineural hearing loss, confirmed by abnormal auditory brainstem responses, and received bilateral cochlear implants.
Unusual Association of Orofacial Cleft and Finger-Like Skin Appendages With or Without Constriction Rings: A Disorganization-Like Phenotype?
The authors describe seven patients with orofacial clefts and finger-like skin appendages, which were present with or without constriction rings.
Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variants.
Ten-year-old dizygotic twins presented with bilateral reduced visual acuity and characteristic retinal findings, including multifocal yellow-white flecks, subretinal hyperreflective material with interlaminar splitting…
Linggui Yangyuan Paste for Male Infertility with Shen (Kidney) Deficiency and Blood Stasis Syndrome: A Multicenter, Double-Blind, Double-Dummy, Randomized Controlled Trial.
This multicenter, double-blind, double-dummy randomized trial compared Linggui Yangyuan Paste (LG) with Wuzi Yanzong Oral Solution in 162 men with infertility associated with asthenozoospermia or oligoasthenozoospermia…
KCNH2 Duplication Variant (c.2164_2181dup) Associated With Sudden Cardiac Death in a Family With Congenital Long QT Syndrome.
Postmortem genetic testing of a 34-year-old woman who died suddenly identified a KCNH2 variant of uncertain significance, c.2164_2181dup.
Severe renovascular hypertension in an infant with a SMAD3 gene variant.
A boy described at age 4 had severe renovascular hypertension beginning in infancy, with left ventricular hypertrophy as hypertension-mediated organ damage.
Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.
The report describes three patients with focal dermal hypoplasia, an X-linked dominant disorder caused by loss-of-function variants in PORCN and characterized by abnormalities involving ectodermal, skeletal…
A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.
Kabuki syndrome (KS) is a rare, multiple congenital anomaly syndrome, characterized by dysmorphic facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay, mild-to-moderate intellectual…
Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature.
A 5-month-old male from a consanguineous family presented with severe hypotonia, oculogyric crises, and developmental delay.
Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.
This expert-opinion article discusses ENPP1 deficiency, a genetic disorder caused by loss-of-function mutations and associated with low circulating inorganic pyrophosphate, bone hypomineralization, soft-tissue…
February 20267
Congenital core myopathy linked to SOX5 : Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.
A 20-year-old woman with neonatal hypotonia, delayed motor milestones, proximal weakness and learning difficulties had a normal serum creatine kinase and mild myogenic changes on electroneuromyography.
A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.
A late-preterm female had multiple congenital malformations identified prenatally, including congenital diaphragmatic hernia (CDH).
Double Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases.
A 36-year-old woman presented with acute aortic dissection and required emergency surgery. Eight years later, her child was diagnosed with an aortic aneurysm; head MRI also showed periventricular nodular heterotopia.
Immune Dysregulation, Polyendocrinopathy and Enteropathy X-Linked Syndrome with Neonatal Onset: A Case Report.
A male infant born preterm at 30 weeks’ gestation developed enteropathy, eczema, eosinophilia, transfusion-dependent cytopenias, recurrent infections, and a desquamative rash.
A case of Kabuki syndrome with congenital pulmonary airway malformation.
A child with delayed physical growth and neurological, psychological, and intellectual development had facial features including arched eyebrows and elongated eyelids slanting downward.
Familial Mediterranean Fever Presenting with Recurrent Abdominal Pain without Periodic Fever Following COVID-19.
A 16-year-old girl developed recurrent abdominal pain without fever after COVID-19. Initial evaluation, including endoscopy, was unremarkable apart from mildly elevated fecal calprotectin (182.1 μg/g).
Incidental MSH6 Germline Pathogenic Variant Identified through Tumor-only Comprehensive Genomic Profiling in a Patient with Small Cell Lung Cancer.
A 55-year-old woman with limited-disease small cell lung cancer had a partial response to first-line chemotherapy, followed by recurrence after one year.
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