THE FREQUENCY OF UNIPARENTAL DISOMY IN PRADER-WILLI SYNDROME: Implications for Molecular Diagnosis

BACKGROUND. Prader–Willi syndrome is a genetic disorder characterized by infantile hypotonia, obesity, hypogonadism, and mental retardation, but it is difficult to diagnose clinically in infants and young children. In about two thirds of patients, a cytogenetically visible deletion can be detected i...

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Bibliografske podrobnosti
izdano v:N Engl J Med
Main Authors: Mascari, Maria J., Gottlieb, Wayne, Rogan, Peter K., Butler, Merlin G., Waller, David A., Armour, John A.L., Jeffreys, Alec J., Ladda, Roger L., Nicholls, Robert D.
Format: Artigo
Jezik:Inglês
Izdano: 1992
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7556354/
https://ncbi.nlm.nih.gov/pubmed/1584261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJM199206113262404
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