The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency — a Comparative Analysis
Dharmagat Bhattarai(Center for Molecular Dynamics - Nepal), Kathleen E. Sullivan(Children's Hospital of Philadelphia), Jolán E. Walter(University of South Florida), Aaqib Zaffar Banday(Post Graduate Institute of Medical Education and Research), Chakshu Chaudhry(Maharishi Markandeshwar University, Mullana), Asbjørg Stray‐Pedersen(Baylor College of Medicine), Pratap Kumar Patra(Post Graduate Institute of Medical Education and Research), Bénédicte Neven(Université Paris-Panthéon-Assas), Ramji Baral(Pokhara University), Ganga Narasimhan(Biocon (India))
Cited by 2
Related Papers
Indications for haematopoietic cell transplantation for haematological diseases, solid tumours and immune disorders: current practice in Europe, 2022
|Bone Marrow Transplantation|2022|378
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
|Journal of Allergy and Clinical Immunology|2017|318
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
|Journal of Allergy and Clinical Immunology|2016|282
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
|The American Journal of Human Genetics|2014|183