Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

Merico, Daniele; Pasternak, Yehonatan; Zarrei, Mehdi; Higginbotham, Edward J; Thiruvahindrapuram, Bhooma; Scott, Ori; Willett-Pachul, Jessica; Grunebaum, Eyal; Upton, Julia; Atkinson, Adelle; Kim, Vy H D; Aliyev, Elbay; Fakhro, Khalid; Scherer, Stephen W; Roifman, Chaim M

Merico, Daniele; Pasternak, Yehonatan; Zarrei, Mehdi; Higginbotham, Edward J; Thiruvahindrapuram, Bhooma; Scott, Ori; Willett-Pachul, Jessica; Grunebaum, Eyal; Upton, Julia; Atkinson, Adelle; Kim, Vy H D; Aliyev, Elbay; Fakhro, Khalid; Scherer, Stephen W; Roifman, Chaim M.

Afiliación

Merico D; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.
Pasternak Y; Deep Genomics Inc., Toronto, M5G 1M1, ON, Canada.
Zarrei M; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada.
Higginbotham EJ; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.
Thiruvahindrapuram B; University of Toronto, Toronto, M5S 1A8, ON, Canada.
Scott O; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.
Willett-Pachul J; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.
Grunebaum E; The Centre for Applied Genomics (TCAG), Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, M5G 0A4, ON, Canada.
Upton J; Canadian Center for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Toronto, M5G1X8, ON, Canada.
Atkinson A; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.
Kim VHD; University of Toronto, Toronto, M5S 1A8, ON, Canada.
Aliyev E; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.
Fakhro K; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.
Scherer SW; University of Toronto, Toronto, M5S 1A8, ON, Canada.
Roifman CM; Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, M5G 1×8, ON, Canada.

NPJ Genom Med ; 6(1): 96, 2021 Nov 18.

Article en En | MEDLINE | ID: mdl-34795304

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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: NPJ Genom Med Año: 2021 Tipo del documento: Article País de afiliación: Canadá

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