Medicine:Schimke syndrome
From HandWiki
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Schimke syndrome is a rare autosomal recessive disorder.[2]
The disorder was first described in 1971 by Schimke.[3]
Diagnosis
Most people with this disorder are diagnosed at age 6.[4]
Tests for mutations in the SMARCAL1 can confirm the diagnosis.[5]
Prevalence
The exact prevalence is unknown but is said to occur in 1 in a million births in North America.[5] The disorder is said to occur in 1 in 1 million or 1 in 3 million people in North America.[6]
References
- ↑ "Schimke immunoosseous dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/4984/schimke-immunoosseous-dysplasia.
- ↑ Burns, Tony; Breathnach, Stephen M.; Cox, Neil; Griffiths, Christopher (2008-04-15) (in en). Rook's Textbook of Dermatology. John Wiley & Sons. pp. 39. ISBN 978-1-4051-4104-8. https://books.google.com/books?id=n0y6NMnviLkC&q=Schimke+immunoosseous+dysplasia.
- ↑ Sullivan, Kathleen E.; Stiehm, E. Richard (2014-08-08) (in en). Stiehm's Immune Deficiencies. Academic Press. pp. 185. ISBN 978-0-12-405860-6. https://books.google.com/books?id=OTrLAwAAQBAJ&q=Schimke+syndrome&pg=PA198.
- ↑ "Schimke Immuno-osseous Dysplasia (SIOD) - Stanford Children's Health". https://www.stanfordchildrens.org/en/service/kidney-transplant/siod.
- ↑ 5.0 5.1 "Schimke Immuno-Osseous Dysplasia" (in en-US). https://rarediseases.org/rare-diseases/schimke-immuno-osseous-dysplasia/.
- ↑ "Schimke immuno-osseous dysplasia: MedlinePlus Genetics" (in en). https://medlineplus.gov/genetics/condition/schimke-immuno-osseous-dysplasia/.
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