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Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, Thérèse Bouthors, Maria Christina Antoniou, Eric Jacot, Klaus Brusgaard, Henrik Thybo Christesen, Khalid Hussain, Andrew Dwyer, Matthias Roth-Kleiner, Michael Hauschild
Ann Pediatr Endocrinol Metab. 2021;26(1):60-65.   Published online August 7, 2020
DOI: https://doi.org/10.6065/apem.2040042.021

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Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
Annals of Pediatric Endocrinology & Metabolism. 2021;26(1):60-65   Crossref logo
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Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism
Children. 2021;8(10):836   Crossref logo
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First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
Case Reports in Genetics. 2019;2019:1-5   Crossref logo
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Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism
Case Reports in Endocrinology. 2021;2021:1-6   Crossref logo
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Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
Clinical Case Reports. 2020;8(7):1217-1222   Crossref logo
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Congenital hyperinsulinism associated with Hirschsprung’s disease—a report of an extremely rare case
Surgical Case Reports. 2020;6(1):   Crossref logo
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Modeling Congenital Hyperinsulinism with ABCC8-Deficient Human Embryonic Stem Cells Generated by CRISPR/Cas9
Scientific Reports. 2017;7(1):   Crossref logo
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Two Different Meningioma Variants in the Same Tumor: A Rare Histopathological Finding
Case Reports in Pathology. 2019;2019:1-4   Crossref logo
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SUN-270 Heterozygous Mutation in ABCC8 in a Pedigree with Congenital Hyperinsulinism, Multiple Macrosomic Stillbirths, and Adult-Onset Diabetes Mellitus
Journal of the Endocrine Society. 2019;3(Supplement_1):   Crossref logo
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Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation
Endocrinology, Diabetes & Metabolism Case Reports. 2019;2019:   Crossref logo
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