Article
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Journal of medical genetics - 1 Aug 2013
Kerstjens-Frederikse Wilhelmina S, Bongers Ernie M H F, Roofthooft Marcus T R, Leter Edward M, Douwes J Menno, Van Dijk Arie, Vonk-Noordegraaf Anton, Dijk-Bos Krista K, Hoefsloot Lies H, Hoendermis Elke S, Gille Johan J P, Sikkema-Raddatz Birgit, Hofstra Robert M W, Berger Rolf M F
Abstract excerpt
BACKGROUND: Childhood-onset pulmonary arterial hypertension (PAH) is rare and differs from adult-onset disease in clinical presentation, with often unexplained mental retardation and dysmorphic features (MR/DF). Mutations in the major PAH gene, BMPR2, were reported to cause PAH in only 10-16% of childhood-onset patients. We aimed to identify more genes associated with childhood-onset PAH. METHODS: We studied 20...
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