Clinical utility gene card for: Cantú syndrome

Author:

Kirk Edwin P,Scurr Ingrid,van Haaften GijsORCID,van Haelst Mieke M,Nichols Colin G,Williams Maggie,Smithson Sarah F,Grange Dorothy K

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Harakalova M, van Harssel JJT, Terhal PA et al: Dominant missense mutations in ABCC9 cause Cantú syndrome. Nat Genet 2012; 44: 793–796.

2. van Bon BWM, Gilissen C, Grange DK et al: Cantú Syndrome is Caused by Mutations in ABCC9. Am J Hum Genet 2012; 90: 1094–1101.

3. Brownstein CA, Towne MC, Luquette LJ et al: Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition. Eur J Hum Genet 2013; S6: 678–682.

4. Cooper PE, Reutter H, Woelfle J et al: Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene. Hum Mutat 2014; 35: 809–813.

5. Grange DK, Nichols CG, Singh GK . Cantú syndrome and related disorders. In: Pagon RA, Adam MP, Ardinger HH et al (eds): GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle, 2014; 1993–2016. Available from https://www.ncbi.nlm.nih.gov/books/NBK246980/ .

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3. A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP‐sensitive potassium channel in a Japanese patient with Cantú syndrome;Journal of the European Academy of Dermatology and Venereology;2020-05-06

4. Genetic Discovery of ATP-Sensitive K + Channels in Cardiovascular Diseases;Circulation: Arrhythmia and Electrophysiology;2019-05

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