Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient
Vuillaumier-Barrot, Sandrine, Schiff, Manuel, Mattioli, Francesca, Schaefer, Elise, Dupont, Audrey, Dancourt, Julia, Dupré, Thierry, Couvineau, Alain, de Baulny, Hélène Ogier, de Lonlay, Pascale, SetaLanguage:
english
Journal:
Pediatric Research
DOI:
10.1038/s41390-018-0231-5
Date:
November, 2018
File:
PDF, 678 KB
english, 2018