A specific homozygous variant in FICD is a novel cause of infancy-onset diabetes and severe neurodevelopmental delay

被引：0
|
作者：
De Franco, E. [1 ]
Perera, L. A. [2 ]
Harding, H. P. [2 ]
Wakeling, M. N. [1 ]
Flanagan, S. E. [1 ]
Moshina, I. [3 ]
Raza, J. [3 ]
Gardham, A. [4 ]
Ron, D. [2 ]
Hattersley, A. T. [1 ]
机构：
[1] Univ Exeter, Inst Biomed & Clin Sci, Fac Hlth & Life Sci, Exeter, Devon, England
[2] Univ Cambridge, Cambridge Inst Med Res, Cambridge, England
[3] Natl Inst Child Hlth, Dept Endocrine & Diabet, Karachi, Pakistan
[4] North West Thames Reg Genet Serv, Harrow, Middx, England
来源：
DIABETIC MEDICINE | 2023年 / 40卷
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中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
A37 (P56)
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页数：1
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