Litcius/Paper detail

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 Böhrer‐Rabel, Alfonso Caro‐Llopis, Trevor Cole, Felix Distelmaier, Patrick Edery, Carlos R. Ferreira, Aleksandra Jezela‐Stanek, Bronwyn Kerr, Gerhard Kluger, Peter Krawitz, Marius Kuhn, Johannes R. Lemke, Gaëtan Lesca, Sally Ann Lynch, Francisco Martı́nez, Caroline Maxton, Hanna Mierzewska, Sandra Monfort, Joost Nicolai, Carmen Orellana, Deb K. Pal, Rafał Płoski, Oliver Quarrell, Mónica Rosello, Małgorzata Rydzanicz, Ataf Sabir, Robert Śmigiel, Alexander P.A. Stegmann, Helen Stewart, Constance T. R. M. Stumpel, Elżbieta Szczepanik, Andreas Tzschach, Lynne A. Wolfe, Jenny C. Taylor, Yoshiko Murakami, Taroh Kinoshita, Allan Bayat, Usha Kini

2022Genetics in Medicine11 citationsDOIOpen Access PDF

Topics & Concepts

HypotoniaMissense mutationMedicinePenetranceCongenital diaphragmatic herniaDiaphragmatic herniaGeneticsGenotypePhenotypeArthrogryposisPediatricsBiologyHerniaFetusGeneSurgeryPregnancyGenomics and Rare DiseasesConnective tissue disorders researchGenomic variations and chromosomal abnormalities