Three‐dimensional facial morphology in Cantú syndrome

Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP‐sensitive potassium (K(ATP)) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia, extensive cardio...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7217184/
https://ncbi.nlm.nih.gov/pubmed/32100467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61517
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