research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report 2 citations , January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment 39 citations , January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Syndromes of Severe Insulin Resistance (SSIRs) November 2004 The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.