Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

BACKGROUND: Pathogenic CDKN1C gain-of-function variants on the maternal allele were initially reported as a cause of IMAGe syndrome characterized by intrauterine growth retardation, metaphyseal dysplasia, primary adrenal insufficiency and genital anomalies. Recently, a maternally inherited CDKN1C mi...

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Detalles Bibliográficos
Autores principales: Binder, Gerhard, Ziegler, Julian, Schweizer, Roland, Habhab, Wisam, Haack, Tobias B., Heinrich, Tilman, Eggermann, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574352/
https://www.ncbi.nlm.nih.gov/pubmed/33076988
http://dx.doi.org/10.1186/s13148-020-00945-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574352/
https://www.ncbi.nlm.nih.gov/pubmed/33076988
http://dx.doi.org/10.1186/s13148-020-00945-y

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