학술논문
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
Document Type
Article
Author
Loong, L.; Stewart, H.; Kini, U.; Tardivo, A.; Knaus, A.; Krawitz, P.M.; Hashim, M.; Pagnamenta, A.T.; Taylor, J.C.; Alt, K.; Böhrer-Rabel, H.; Kluger, G.; Kuhn, M.; Caro-Llopis, A.; Martinez, F.; Monfort, S.; Orellana, C.; Rosello, M.; Cole, T.; Sabir, A.; Distelmaier, F.; Edery, P.; Lesca, G.; Ferreira, C.R.; Wolfe, L.; Jezela-Stanek, A.; Kerr, B.; Lemke, J.R.; Lynch, S.A.; Maxton, C.; Mierzewska, H.; Szczepanik, E.; Nicolai, J.; Pal, D.K.; Płoski, R.; Rydzanicz, M.; Quarrell, O.W.; Śmigiel, R.; Stegmann, A.P.A.; Stumpel, C.; Tzschach, A.; Murakami, Y.; Kinoshita, T.; Bayat, A.
Source
In: Genetics in Medicine . (Genetics in Medicine, January 2023, 25(1):37-48)
Subject
Language
English
ISSN
15300366
10983600
10983600