Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature-Reference-Cited by-同舟云学术

Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature

Published:2014-01-01 Issue:1-2 Volume:27 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Pietzner Vera,Weigel Johannes F.W.,Wand Dorothea,Merkenschlager Andreas,Bernhard Matthias K.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2013-0090/pdf

Reference88 articles.

1. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes;Migeon;Proc Natl Acad Sci USA,1993

2. Kabuki syndrome revisited;Bokinni;J Hum Genet,2012

3. phenotypes associated with inactive ring chromosomes;Migeon;Am J Med Genet,2000

4. Hyperinsulinemic hypoglycemia in a newborn infant with trisomy;Tamame;Am J Med Genet,2004

5. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes;Migeon;Proc Natl Acad Sci USA,1993

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical practice guidelines for the care of girls and women with Turner syndrome;European Journal of Endocrinology;2024-05-15

2. Syndromic forms of congenital hyperinsulinism;Frontiers in Endocrinology;2023-03-30

3. Hypoglycemia in the Newborn and Infant;Sperling Pediatric Endocrinology;2021

4. Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia;Journal of Pediatric Endocrinology and Metabolism;2020-08-25

5. The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism;Frontiers in Endocrinology;2019-02-26