Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants
新生儿糖尿病是隐性NARS2变异引起的COXPD-24的显著特征。
IF 3.4
3区 医学
Q2 ENDOCRINOLOGY & METABOLISM
Pub Date : 2025-08-31
DOI: 10.1111/dme.70129
Russell Donis, Matthew N. Wakeling, Nicola Jeffery, Molly Govier, Matthew B. Johnson, Samar Sabir Hassan, Mohammed Ahmed Abdullah, Khadiga Yehia Elsayed Eltonbary, Nima Parvaneh, Mahsa M. Amoli, Farzaneh Abbasi, Selin Elmaoğulları, Semra Çetinkaya, Kubra Gunes, Meltem Tayfun, Hanieh Yaghootkar, Andrew T. Hattersley, Sarah E. Flanagan, Elisa De Franco