Trending archive
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512 articles
August 20253
A Case of Carney Complex with Pontine Glioma.
An 11-year-old girl with a history of pontine glioma treated with chemotherapy and radiotherapy in early childhood presented with weight gain and short stature.
Hereditary Hypophosphatemic Rickets with Hypercalciuria-Importance of Further Evaluation when Clinical Suspicion is Strong.
The report describes two children with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). A 5.5-year-old presented with rickets, an abnormal bone profile and normal vitamin D; urinary phosphate studies…
Somatic and germinal mosaicism of a canonical splicing variant causing limb-girdle muscular dystrophy type 1B.
Limb-girdle muscular dystrophy type 1B is one of several muscular dystrophies caused by pathogenic variants in the LMNA gene.
June 20252
Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants.
A preterm male infant born to consanguineous parents presented with advanced kidney dysfunction and severe renal salt wasting, suggesting prenatal-onset Bartter syndrome.
Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.
Two young patients were diagnosed with campomelic dysplasia, with characteristic skeletal findings including bowed lower limbs, pretibial dimples, Pierre Robin sequence, and bilateral clubfoot, as well as motor and…
May 20251
April 20252
Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy.
Two boys with short stature and a history of being born small for gestational age underwent clinical exome sequencing, which identified novel heterozygous IGF1R variants.
Complete-arch implant rehabilitation and adjunctive orthognathic surgery of a patient with hypohidrotic ectodermal dysplasia utilizing a digital workflow: A clinical report.
An adolescent with hypohidrotic ectodermal dysplasia (HED), a genetic disorder associated with congenital ectodermal anomalies and commonly with hypodontia or oligodontia, underwent complete-arch implant rehabilitation…
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