Article
PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).
Hypertension research : official journal of the Japanese Society of Hypertension - 1 Nov 2018
Renkema Kirsten Y, Westermann Jonne M, Nievelstein Rutger A J, Lo-A-Njoe Shirley M, van der Zwaag Bert, Manshande Meindert E, van Haelst Mieke M
Abstract excerpt
Autosomal-dominant hypertension and brachydactyly syndrome (HTNB; Bilginturan syndrome) is known to cause stroke before age 50 when untreated. We report a novel PDE3A gene mutation in a mother and daughter affected with dominant brachydactyly of the hands and feet, a short stature, and hypertension. The hypertension was medically responsive to anti-hypertensive treatment. The 3-bp deletion in the PDE3A gene...
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