Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report
Author:
Funder
National Natural Science Foundation of China
National Key R&D Program of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-020-01077-z.pdf
Reference14 articles.
1. Bilginturan N, Zileli S, Karacadag S, Pirnar T. Hereditary brachydactyly associated with hypertension. J Med Genet. 1973;10(3):253–9.
2. Schuster H, Wienker TE, Bahring S, Bilginturan N, Toka HR, Neitzel H, Jeschke E, Toka O, Gilbert D, Lowe A, et al. Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. Nat Genet. 1996;13(1):98–100.
3. Maass PG, Aydin A, Luft FC, Schachterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, et al. PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nat Genet. 2015;47(6):647–53.
4. Luft FC, Toka O, Toka HR, Jordan J, Bahring S. Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. Am J Physiol Regul Integr Comp Physiol. 2003;285(4):R709–14.
5. Bahring S, Rauch A, Toka O, Schroeder C, Hesse C, Siedler H, Fesus G, Haefeli WE, Busjahn A, Aydin A, et al. Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. Hypertension. 2004;43(2):471–6.
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