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Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

BACKGROUND: Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. OBJECTIVE: We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children's Hospital of Philadelphi...

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Detalhes bibliográficos
Publicado no:Horm Res Paediatr
Main Authors: Gibson, Christopher E., Boodhansingh, Kara E., Li, Changhong, Conlin, Laura, Chen, Pan, Becker, Susan A., Bhatti, Tricia, Bamba, Vaneeta, Adzick, N. Scott, De Leon, Diva D., Ganguly, Arupa, Stanley, Charles A.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6067979/
https://ncbi.nlm.nih.gov/pubmed/29902804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000488347
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