Biology:Schimke syndrome
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Schimke syndrome (also called Schimke immunoosseous dysplasia, Schimke immuno-osseous dysplasia, or Spondyloepiphyseal dysplasia nephrotic syndrome) is a autosomal recessive disorder.[1]
Prevalence
The disorder is said to occur in 1 in 1 million or 1 in 3 million in North America.[2]
References
- ↑ Dekel, Benjamin; Metsuyanim, Sally; Goldstein, Nurit; Pode-Shakked, Naomi; Kovalski, Yael; Cohen, Yoram; Davidovits, Miriam; Anikster, Yair (April 2008). "Schimke Immuno-Osseous Dysplasia: Expression of SMARCAL1 in Blood and Kidney Provides Novel Insight Into Disease Phenotype" (in en). Pediatric Research 63 (4): 398–403. doi:10.1203/PDR.0b013e31816721cc. ISSN 1530-0447. https://www.nature.com/articles/pr200880.
- ↑ "Schimke immuno-osseous dysplasia: MedlinePlus Genetics" (in en). https://medlineplus.gov/genetics/condition/schimke-immuno-osseous-dysplasia/.
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