Article
Schimke immuno-osseous dysplasia: a clinicopathological correlation.
Journal of medical genetics - 1 Feb 2007
Clewing J Marietta, Antalfy Barbara C, Lücke Thomas, Najafian Behzad, Marwedel Katja M, Hori Akira, Powel Ralph M, Do A F Safo, Najera Lydia, SantaCruz Karen, Hicks M John, Armstrong Dawna L, Boerkoel Corndins F
Abstract excerpt
BACKGROUND: Schimke immuno-osseous dysplasia (SIOD) is a fatal autosomal recessive disorder caused by loss-of-function mutations in swi/snf-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1). METHODS: Analysis of detailed autopsies to correlate clinical and pathological findings in two men severely affected with SIOD. RESULTS: As predicted by the clinical course, T...
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