Schimke immuno‐osseous dysplasia: a clinicopathological correlation

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 a...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598061/
https://ncbi.nlm.nih.gov/pubmed/16840568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.044313
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