Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia

OBJECTIVE: Hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or more rarely feature as part of a syndrome. Screening for mutations in the “syndromic” HH genes is guided by phenotype with genetic testing used to confirm the clinical diagnosis. As HH can be the presenting feature of a syndro...

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Detalles Bibliográficos
Autores principales: Laver, Thomas W., Wakeling, Matthew N., Hua, Janet Hong Yeow, Houghton, Jayne A. L., Hussain, Khalid, Ellard, Sian, Flanagan, Sarah E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
ORIGINAL ARTICLES
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283248/
https://www.ncbi.nlm.nih.gov/pubmed/30238501
http://dx.doi.org/10.1111/cen.13841

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283248/
https://www.ncbi.nlm.nih.gov/pubmed/30238501
http://dx.doi.org/10.1111/cen.13841

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