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An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.


ABSTRACT: Imprinted genes are expressed in a parent of origin manner. Dysregulation of imprinted genes expression causes various disorders associated with abnormalities of growth, neurodevelopment, and metabolism. Molecular mechanisms leading to imprinting disorders and strategies for their diagnosis are discussed in this review article.

SUBMITTER: Grafodatskaya D 

PROVIDER: S-EPMC5288000 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature

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An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.

Grafodatskaya Daria D   Choufani Sanaa S   Basran Raveen R   Weksberg Rosanna R  

Journal of pediatric genetics 20161110 1


Imprinted genes are expressed in a parent of origin manner. Dysregulation of imprinted genes expression causes various disorders associated with abnormalities of growth, neurodevelopment, and metabolism. Molecular mechanisms leading to imprinting disorders and strategies for their diagnosis are discussed in this review article. ...[more]

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