Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia-Reference-Cited by-同舟云学术

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

Author:

Laver Thomas W.¹,Wakeling Matthew N.¹,Hua Janet Hong Yeow²,Houghton Jayne A. L.³,Hussain Khalid⁴,Ellard Sian¹,Flanagan Sarah E.¹^ORCID

Affiliation:

1. Institute of Biomedical and Clinical Science; University of Exeter Medical School; Exeter UK

2. Paediatric Department; Hospital Putrajaya; Putrajaya Malaysia

3. Department of Molecular Genetics; Royal Devon and Exeter NHS Foundation Trust; Exeter UK

4. Department of Pediatric Medicine; Division of Endocrinology; Sidra Medicine; Doha Qatar

Funder

Wellcome Trust

Royal Society

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

Reference35 articles.

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5. Congenital hyperinsulinism disorders: Genetic and clinical characteristics;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2019-08-14