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Paper Details

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
4
2023
Biallelic, Fryns syndrome, Leu311Trp, MCAHS, MCAHS1, PIGN, PIGN variants, Ser893Arg, abdominal wall defects, biallelic, biallelic-truncating variants, c, c., congenital anomalies, developmental delay, diaphragmatic hernia, dysmorphism, final exon, hypotonia, hypotonia-seizures syndrome, multiple congenital anomalies-hypotonia-seizure syndrome, neurologic, neurologic problems, p, patient, patients, polyhydramnios, prenatal or neonatal death, seizures
Author NameAffiliation
Alistair T PagnamentaNIHR Oxford Biomedical Research Centre, University of Oxford
Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health
Peter M KrawitzInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-University Bonn
Sally Ann Lynch
Rafa?? P??oskiMedical University of Warsaw
Lynne A WolfeNational Human Genome Research Institute, National Institutes of Health
Lynne A WolfeNational Human Genome Research Institute, National Institutes of Health
Jenny C TaylorNIHR Oxford Biomedical Research Centre, University of Oxford
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