Hyperinsulinemic Hypoglycemia in Seven Patients with de novo NSD1 Mutations

Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features and intellectual disability caused by haploinsufficiency of the NSD1 gene. Genotype-phenotype correlations have been observed, with major anomalies seen more frequently in patients with 5q35 deletions than those wi...

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Publicado no:Am J Med Genet A
Principais autores: Grand, Katheryn, Gonzalez-Gandolfi, Christina, Ackermann, Amanda M., Aljeaid, Deema, Bedoukian, Emma, Bird, Lynne M., De Leon, Diva D., Diaz, Jullianne, Hopkin, Robert J., Kadakia, Sejal P., Keena, Beth, Klein, Karen O., Krantz, Ian, Leon, Eyby, Lord, Katherine, McDougall, Carey, Medne, Livija, Skraban, Cara M., Stanley, Charles A., Tarpinian, Jennifer, Zackai, Elaine, Deardorff, Matthew A., Kalish, Jennifer M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6454923/
https://ncbi.nlm.nih.gov/pubmed/30719864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61062
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