article_metadata: Arend Bokenkamp Antonia Bouts Neeltje van der Weerd Elena Levtchenko Dieter Haffner Miroslav Zivicnjak
article_metadata: 10.1007/s00467-024-06503-5
article_metadata: Pediatr Nephrol
article_metadata: 2025 Mar;40(3):701-703.
article_metadata: anthropometry disproportionate short stature schimke immuno-osseous-dysplasia
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39292251/
article_metadata: Nephrotic Syndrome / genetics Osteochondrodysplasias / diagnosis Osteochondrodysplasias / genetics Osteochondrodysplasias / pathology Primary Immunodeficiency Diseases / diagnosis Primary Immunodeficiency Diseases / genetics Siblings
article_metadata: Nephrotic Syndrome / genetics Osteochondrodysplasias / diagnosis Osteochondrodysplasias / genetics Osteochondrodysplasias / pathology Primary Immunodeficiency Diseases / diagnosis Primary Immunodeficiency Diseases / genetics Siblings Case Reports Adolescent Arteriosclerosis / genetics Arteriosclerosis / pathology Body Height / genetics Child DNA Helicases / genetics Growth Disorders / etiology Growth Disorders / genetics Growth Disorders / pathology Humans Male Mutation, Missense Pancytopenia / diagnosis Pancytopenia / etiology Pancytopenia / genetics Peripheral Vascular Diseases / genetics Pulmonary Embolism / diagnosis Pulmonary Embolism / genetics SMARCAL1 protein, human DNA Helicases Schimke immunoosseous dysplasia
article_metadata: PMC11753360
article_metadata: 39292251
article_metadata: Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia
article_metadata: 2025