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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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| Yayımlandı: | Am J Med Genet A |
|---|---|
| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2018
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| 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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