Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

@article{Goldenberg2016ClinicalAM,
  title={Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.},
  author={Alice Goldenberg and Florence Riccardi and Aude Tessier and Rolph Pfundt and Tiffany Busa and Pierre Cacciagli and Yline Capri and Charles Coutton and Andree Delahaye-Duriez and Thierry 11 Fr{\'e}bourg and Vincent Gatinois and Anne-Marie Guerrot and David Genevi{\`e}ve and François Lecoquierre and Aur{\'e}lia Jacquette and Philippe Khau van Kien and Bruno P. Leheup and Sandrine Marlin and Alain Verloes and Vincent Michaud and Gwenael Nadeau and Cyril Mignot and Philippe Parent and Massimiliano Rossi and Annick Toutain and Elise Schaefer and Christel Thauvin-Robinet and Lionel Van Maldergem and Julien Thevenon and V{\'e}ronique Satre and Laurence Perrin and Catherine Vincent-Delorme and Arthur Sorlin and Chantal Missirian and Laurent Villard and Julien Mancini and Pascale Saugier-V{\'e}ber and Nicole Philip},
  journal={American journal of medical genetics. Part A},
  year={2016},
  volume={170 11},
  pages={
          2847-2859
        }
}
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 39 patients affected by KBG syndrome. Among them, 19 were diagnosed after the detection of a 16q24.3 deletion encompassing the ANKRD11 gene by array CGH. In the 20 remaining patients, the clinical suspicion was confirmed by the identification of an ANKRD11 mutation by direct sequencing. We present… CONTINUE READING