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  • Alice Goldenberg, Florence Riccardi, +35 authors Nicole Philip
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 2016 (First Publication: 1 November 2016)
  • KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39Continue Reading
  • Solène Monfermé, Eulalie Lasseaux, +15 authors Benoît Arveiler
  • Medicine
  • The British journal of ophthalmology
  • 2018 (First Publication: 1 September 2019)
  • AIM Oculocutaneous albinism type 1 (OCA1) is due to TYR mutations. c.1205G>A/p.Arg402Gln (R402Q) is a thermosensitive variant of the TYR gene that has been reported to be responsible for mild formsContinue Reading
  • Thibaut Matis, Vincent Michaud, +6 authors Aurélien Trimouille
  • Biology, Medicine
  • The journal of gene medicine
  • 2020 (First Publication: 4 April 2020)
  • BACKGROUND The development of Whole-Exome sequencing (WES) and Whole-Genome sequencing (WGS) for clinical purpose allows now to identify multiple pathogenic variants in a patient with a rare disease.Continue Reading