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Disease: Petty Laxova Wiedemann syndrome

  • A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24
  • Accurate Detection of Dysmorphic Nuclei Using Dynamic Programming and Supervised Classification
  • Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome?
  • De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
  • Different GCMs yet similar outcome: predicting the habitat distribution of Shorea robusta C.F. Gaertn. in the Indian Himalayas using CMIP5 and CMIP6 climate models
  • Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype
  • Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?
  • Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome--a case report
  • Performance evaluation of CMIP6 climate models for selecting a suitable GCM for future precipitation at different places of Tamil Nadu
  • Petty-Laxova-Wiedemann progeroid syndrome: further phenotypical delineation and confirmation of a rare syndrome of premature aging
  • Two sisters resembling Gorlin-Chaudhry-Moss syndrome
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