TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

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 chi...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2013
Assuntos:
New Disease Loci
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3717587/
https://ncbi.nlm.nih.gov/pubmed/23592887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101152
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