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Biallelic Variants in PIGN Cause Fryns Syndrome, Multiple Congenital Anomalies-Hypotonia-seizures Syndrome, and Neurologic Phenotypes: A Genotype-Phenotype Correlation Study.

Lucy Loong,Agostina Tardivo,Alexej Knaus,Mona Hashim,Alistair T. Pagnamenta,Kerstin Alt, Helena Boehrer-Rabel,Alfonso Caro-Llopis,Trevor Cole,Felix Distelmaier,Patrick Edery,Carlos R. Ferreira,Aleksandra Jezela-Stanek,Bronwyn Kerr,Gerhard Kluger,Peter M. Krawitz,Marius Kuhn,Johannes R. Lemke,Gaetan Lesca,Sally Ann Lynch,Francisco Martinez,Caroline Maxton,Hanna Mierzewska,Sandra Monfort,Joost Nicolai,Carmen Orellana,Deb K. Pal,Rafal Ploski,Oliver W. Quarrell,Monica Rosello,Malgorzata Rydzanicz,Ataf Sabir,Robert Smigiel,Alexander P. A. Stegmann,Helen Stewart,Constance Stumpel,Elzbieta Szczepanik,Andreas Tzschach,Lynne Wolfe,Jenny C. Taylor,Yoshiko Murakami,Taroh Kinoshita,Allan Bayat,Usha Kini

Genetics in medicine（2023）

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关键词
Epilepsy,Fryns syndrome,GPIdeficiency,MCAHS1,PIGN
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