Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings

Schimke immuno-osseous dysplasia (SIOD) (MIM:242900) is an ultra-rare, autosomal recessive, pan-ethnic pleiotropic disease. Typical findings of this syndrome are steroid-resistant nephrotic syndrome, cellular immunodeficiency, spondyloepiphyseal dysplasia (SED) and facial dysmorphism. Biallelic vari...

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Bibliographic Details

Published in:	JCRPE
Main Authors:	Ceren Alavanda, Şenol Demir, Serçin Güven, Mehmet Eltan, Sevgi Bilgiç Eltan, Asena Pınar Sefer, Serim Pul, Tülay Güran, Harika Alpay, Ahmet Arman, Pınar Ata, Serap Turan
Format:	Article
Language:	English
Published:	Pediatric Endocrinology and Diabetes Society 2025-06-01
Subjects:	smarcal1 hypercalcemia hypophosphatemia ectopic kidney gonadal dysfunction
Online Access:	https://www.jcrpe.org/articles/expanding-the-clinical-features-of-schimke-immuno-osseous-dysplasia-a-new-patient-with-a-novel-variant-and-novel-clinical-findings/doi/jcrpe.galenos.2024.2024-1-17