Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (K ) channels, respectively. Multiple case reports of affected individuals have described the various clinical features...

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Bibliographic Details
Published in:	American journal of medical genetics. Part C, Seminars in medical genetics Vol. 181; no. 4; p. 658
Main Authors:	Grange, Dorothy K, Roessler, Helen I, McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S, Knoers, Nine V A M, Lee, Jin-Moo, Kirk, Edwin P, Scurr, Ingrid, Smithson, Sarah F, Singh, Gautam K, van Haelst, Mieke M, Nichols, Colin G, van Haaften, Gijs
Format:	Journal Article
Language:	English
Published:	United States 01.12.2019
Subjects:	Adolescent Adult Cardiomegaly - epidemiology Cardiomegaly - genetics Child Facies Female Humans Hypertrichosis - epidemiology Hypertrichosis - genetics Male Osteochondrodysplasias - epidemiology Osteochondrodysplasias - genetics Phenotype Registries Young Adult polyhydramnios hypertrichosis ABCC9 Cantú PDA cardiomegaly
ISSN:	1552-4876, 1552-4876
Online Access:	Get more information
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