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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia.
Pediatr Diabetes. 2017 Jun;18(4):320-323. doi: 10.1111/pedi.12512. Epub 2017 Mar 20.
Pediatr Diabetes. 2017.
PMID: 28318089
Free PMC article.
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
Çamtosun E, Flanagan SE, Ellard S, Şıklar Z, Hussain K, Kocaay P, Berberoğlu M.
Çamtosun E, et al.
J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):144-7. doi: 10.4274/jcrpe.1963.
J Clin Res Pediatr Endocrinol. 2015.
PMID: 26316438
Free PMC article.
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