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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Follow-up Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6672026/
https://ncbi.nlm.nih.gov/pubmed/31167805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004200
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