Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Autor:	Olaf Bodamer, Amy E. Knight Johnson, Siri Atma W. Greeley, Alejandro Diaz, Aishwarya Devarajan, Declan Cody, Daniela del Gaudio, Pratik Shah, Kai Lee Yap, Diva D De Leó-Crutchlow, Viswateja Nelakuditi, Sian Ellard, Soma Das, Lisa Truong, David Fischer, Paul S. Thornton, Lindsay C. Burrage, Priscilla Kandikatla, George S. Jeha, Andrew C. Edmondson, Jacea Deml, Sara Halbach, Valeria C Benavides, Darrel Waggoner, Andrea M. Lewis
Rok vydání:	2019
Předmět:	0301 basic medicine Pediatrics medicine.medical_specialty business.industry 030105 genetics & heredity Hypoglycemia medicine.disease Diva 03 medical and health sciences 030104 developmental biology Feature (computer vision) Congenital hyperinsulinism Medicine business Hyperinsulinism Kabuki syndrome Genetics (clinical)
Zdroj:	Genetics in Medicine. 21:233-242
ISSN:	1098-3600
Popis:	The author Diva D. De Leon was incorrectly listed as instead of Diva D. De Leo-Critchlow in the original version of this paper.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::93f637a03e6f3efccd37163e64180288 https://doi.org/10.1038/s41436-018-0013-9 Zobrazit plný text záznamu Full text from SpringerLink