Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
American journal of medical genetics. Part A - 1 Nov 2016
Goldenberg Alice, Riccardi Florence, Tessier Aude, Pfundt Rolph, Busa Tiffany, Cacciagli Pierre, Capri Yline, Coutton Charles, Delahaye-Duriez Andree, Frebourg Thierry, Gatinois Vincent, Guerrot Anne-Marie, Genevieve David, Lecoquierre Francois, Jacquette Aurélia, Khau Van Kien Philippe, Leheup Bruno, Marlin Sandrine, Verloes Alain, Michaud Vincent, Nadeau Gwenael, Mignot Cyril, Parent Philippe, Rossi Massimiliano, Toutain Annick, Schaefer Elise, Thauvin-Robinet Christel, Van Maldergem Lionel, Thevenon Julien, Satre Véronique, Perrin Laurence, Vincent-Delorme Catherine, Sorlin Arthur, Missirian Chantal, Villard Laurent, Mancini Julien, Saugier-Veber Pascale, Philip Nicole
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Aged
- Alleles
- Amino Acid Substitution