Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: Okur, Volkan, Nees, Shannon, Chung, Wendy K., Krishnan, Usha
Format: Artigo
Idioma:Inglês
Publicat: 2018
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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!