SLC35A2-CDG: novel variants with two ends of the spectrum.

Çiğdem Seher KasapkaraAhmet Cevdet CeylanHamit ÖzyürekGülhan Karakaya MollaBurcu Civelek ÜreyOya Kıreker KöylüAynur Küçükçongar YavaşFatma Müjgan Sönmez

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2021)

Our findings expand the number of reported cases and add novel variants to the repertoire of SLC35A2-CDG.

Keyphrases

copy number
gene expression