Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis

Consanguinity in Primary Immunodeficiency Disorders; the Report from Iranian Primary Immunodeficiency Registry

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Life Sciences, Genetics, Immunology +15

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

Holly Smith, Romain Galmes, Ekaterina Gogolina et al. · Human Mutation · 2012 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Clinical Characteristics and <i>VPS33B</i> Mutations in Patients With ARC Syndrome

Joo Young Jang, Kyung Mo Kim, Gu‐Hwan Kim et al. · Journal of Pediatric Gastroenterology and Nutrition · 2009 · 39 citations

Medicine, Genetics, Pediatrics +17

Agranular Platelets as a Cardinal Feature of ARC Syndrome

Seong Min Kim, Hye Kyung Chang, Jaewoo Song et al. · Journal of Pediatric Hematology/Oncology · 2010 · 36 citations · Full text

Medicine, Hematology, Pediatrics +12

Orthopaedic Manifestations of Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Woo Young Jang, Tae‐Joon Cho, Jung Yun Bae et al. · Journal of Pediatric Orthopaedics · 2011 · 15 citations

Medicine, Orthopaedic Surgery, Orthopedic Surgery +17