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Biallelic variants in PIGN cause Fryns syndrome, multiple c..:
Loong, Lucy
;
Tardivo, Agostina
;
Knaus, Alexej
...
Genetics in Medicine. 25 (2023) 1 - p. 37-48 , 2023
Link:
https://doi.org/10.1016/j.gim.2022.09.007
RT Journal T1
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2022.09.007&Exemplar=1&LAN=DE A1 Loong, Lucy A1 Tardivo, Agostina A1 Knaus, Alexej A1 Hashim, Mona A1 Pagnamenta, Alistair T. A1 Alt, Kerstin A1 Böhrer-Rabel, Helena A1 Caro-Llopis, Alfonso A1 Cole, Trevor A1 Distelmaier, Felix A1 Edery, Patrick A1 Ferreira, Carlos R. A1 Jezela-Stanek, Aleksandra A1 Kerr, Bronwyn A1 Kluger, Gerhard A1 Krawitz, Peter M. A1 Kuhn, Marius A1 Lemke, Johannes R. A1 Lesca, Gaetan A1 Lynch, Sally Ann A1 Martinez, Francisco A1 Maxton, Caroline A1 Mierzewska, Hanna A1 Monfort, Sandra A1 Nicolai, Joost A1 Orellana, Carmen A1 Pal, Deb K. A1 Płoski, Rafał A1 Quarrell, Oliver W. A1 Rosello, Monica PB Elsevier BV YR 2023 SN 1098-3600 JF Genetics in Medicine VO 25 IS 1 SP 37 OP 48 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2022.09.007 DO https://doi.org/10.1016/j.gim.2022.09.007 SF ELIB - SuUB Bremen
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