Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

Heterozygous deleterious variants in PHIP have been associated with behavioral problems, intellectual disability/developmental delay, obesity/overweight, and dysmorphic features (BIDOD syndrome). We report an additional 10 individuals with pleckstrin homology domain-interacting protein (PHIP)-predic...

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Detalles Bibliográficos
Autores principales: Craddock, Kirsten E., Okur, Volkan, Wilson, Ashley, Gerkes, Erica H., Ramsey, Keri, Heeley, Jennifer M., Juusola, Jane, Vitobello, Antonio, Dupeyron, Marie-Noelle Bonnet, Faivre, Laurence, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Follow-up Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672026/
https://www.ncbi.nlm.nih.gov/pubmed/31167805
http://dx.doi.org/10.1101/mcs.a004200

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672026/
https://www.ncbi.nlm.nih.gov/pubmed/31167805
http://dx.doi.org/10.1101/mcs.a004200

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