AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
TL;DR
A patient with clinical skeletal features of MCTO who was found to have a novel missense variant in the MAFB gene, in a region where other pathogenic mutations have been described, is presented.
This case expands the mutational and phenotypic spectrum of TP63-associated HED by describing a previously unreported mutation presenting with a pathological femoral neck fracture and end-stage renal disease.
Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare and debilitating genetic disease affecting approximately 1 in 2 million people. It is caused by a heterozygous gain-of-function mutation in the gene encoding activin A receptor type I (ACVR1), leading to dysregulated bone morphogenetic protein (BMP) signa...
Burosumab provides significant biochemical and clinical benefits in patients with severe phenotype of XLH in adults, and the introduction of burosumab has changed the treatment paradigm by directly targeting the underlying pathophysiology of phosphate wasting.
This report presents an educational case emphasizing the importance of integrated clinical, radiological, and laboratory evaluation, and highlights the challenges in interpreting variants of uncertain significance in clinical practice.
This case describes a novel GATM variant in a patient with hypophosphatemic osteomalacia, which underscores the importance of thorough evaluation for early diagnosis and targeted management to achieve better outcomes.
We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.