Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A

Authors:	Emilia Stellacci Roberta Onesimo Alessandro Bruselles Simone Pizzi Domenica Battaglia Chiara Leoni Giuseppe Zampino Marco Tartaglia

Affiliation:	1. Department of Hematology, Oncology, and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy;2. Correspondence to:;3. Emilia Stellacci, Department of Hematology, Oncology, and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena, 299, Rome 00161, Italy.;4. E‐mail:;5. Giuseppe Zampino, Istituto di Pediatria, Fondazione Policlinico Universitario Agostino Gemelli, Largo Gemelli, Rome 00168, Italy.;6. E‐mail:;7. Rare Diseases and Genetic Disorders, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy;8. Genetic Disorders and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy;9. Infantile Neuropsychiatric Unit, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy

Abstract:

Keywords:	KMT2A Weidemann– Steiner syndrome congenital immunodeficiency exome sequencing