Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO

Kabuki syndrome (KS) is a multisystem disorder estimated to occur in 1:32 000 newborns. Pathogenic mutations cause the majority but not all cases of KS in either KMT2D or KDM6A. KS can be suspected by phenotypic features, including infantile hypotonia, developmental delay, dysmorphic features, conge...

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Detalles Bibliográficos
Autores principales: Salguero, Maria V, Chan, Karen, Greeley, Siri Atma W, Dyamenahalli, Umesh, Waggoner, Darrel, del Gaudio, Daniela, Rajiyah, Tara, Lemelman, Michelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8884118/
https://www.ncbi.nlm.nih.gov/pubmed/35237736
http://dx.doi.org/10.1210/jendso/bvac015

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