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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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Bibliografski detalji
Izdano u:Am J Med Genet A
Glavni autori: Okur, Volkan, Nees, Shannon, Chung, Wendy K., Krishnan, Usha
Format: Artigo
Jezik:Inglês
Izdano: 2018
Teme:
Online pristup: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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