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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Detalles Bibliográficos
Autores principales: Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217184/
https://www.ncbi.nlm.nih.gov/pubmed/32100467
http://dx.doi.org/10.1002/ajmg.a.61517

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217184/
https://www.ncbi.nlm.nih.gov/pubmed/32100467
http://dx.doi.org/10.1002/ajmg.a.61517

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