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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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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: Okur, Volkan, Nees, Shannon, Chung, Wendy K., Krishnan, Usha
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
Konular:
Online Erişim: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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