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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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| Publicat a: | Am J Med Genet A |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | 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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