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Pulmonary Hypertension in Patients with 9q34.3 microdeletion-associated Kleefstra Syndrome

Kleefstra Syndrome is a rare genetic disorder caused by mutations in EHMT1, Euchromatin Histone Methyl Transferase 1, or deletions encompassing EHMT1 on 9q34.3. Congenital heart defects are among the major findings in patients with 9q34.3 microdeletion/Kleefstra Syndrome along with recognizable faci...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Okur, Volkan, Nees, Shannon, Chung, Wendy K., Krishnan, Usha
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6107394/
https://ncbi.nlm.nih.gov/pubmed/30063093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38852
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