homozygous variant

Increasing knowledge in IGF1R defects: lessons from 35 new patients
Eloïse Giabicani, Marjolaine Willems, Virginie Steunou, Sandra Chantot-Bastaraud, Nathalie Thibaud, Walid Abi Habib, Salah Azzi, Bich Lam, Laurence Bérard, Hélène Bony-Trifunovic, Cécile Brachet, Elise Brischoux-Boucher, Emmanuelle Caldagues, Regis Coutant, Marie-Laure Cuvelier, Georges Gelwane, Isabelle Guemas, Muriel Houang, Bertrand Isidor, Claire Jeandel, James Lespinasse, Catherine Naud-Saudreau, Monique Jesuran-Perelroizen, Laurence Perrin, Juliette Piard, Claire Sechter, Pierre-François Souchon, Caroline Storey, Domitille Thomas, Yves Le Bouc, Sylvie Rossignol, Irène Netchine, Frédéric Brioude

Journal of Medical Genetics Mar 2020, 57 (3) 160-168; DOI: 10.1136/jmedgenet-2019-106328

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homozygous variant