Segregation Analysis in Shwachman-Diamond Syndrome: Evidence for Recessive Inheritance

Shwachman-Diamond syndrome is a rare disorder of unknown cause. Reports have indicated the occurrence of affected siblings, but formal segregation analysis has not been performed. In families collected for genetic studies, the mean paternal age and mean difference in parental ages were found to be c...

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Bibliografiske detaljer
Main Authors: Ginzberg, H., Shin, J., Ellis, L., Goobie, S., Morrison, J., Corey, M., Durie, P. R., Rommens, J. M.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2000
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288206/
https://ncbi.nlm.nih.gov/pubmed/10739765
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