학술논문
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome
Document Type
Article
Author
Viora-Dupont, E.; Faivre, L.; Denommé-Pichon, A.; Chevarin, M.; Bourgon, N.; Bruel, A.; Duffourd, Y.; Callier, P.; Thauvin, C.; Philippe, C.; Vitobello, A.; Patat, O.; Aubert-Mucca, M.; Willems, M.; Galinier, M.; Itier, R.; Decramer, S.; Piton, A.; Gerard, B.; Billon, C.; Jeunemaitre, X.; Albuisson, J.
Source
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, November 2023, 191(11):2728-2735)
Subject
Language
English
ISSN
15524833
15524825
15524825