Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

BACKGROUND: KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). METHODS: Here, we report a new case of T...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Mégarbané, André, Al-Ali, Rashid, Choucair, Nancy, Lek, Monko, Wang, Ena, Ladjimi, Moncef, Rose, Catherine M., Hobeika, Remy, Macary, Yvette, Temanni, Ramzi, Jithesh, Puthen V., Chouchane, Aouatef, Sastry, Konduru S, Thomas, Remy, Tomei, Sara, Liu, Wei, Marincola, Francesco M., MacArthur, Daniel, Chouchane, Lotfi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4901505/
https://ncbi.nlm.nih.gov/pubmed/27282200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0304-4
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