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Paper Details

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Bone
12
2020
Arg330Gln, Arg428Trp, Catel-Manzke syndrome, KYNU, NAD deficiency, Pierre Robin sequence, TGDS, Trp109Ser, accessory, c., c.1282C>T, c.326G, c.326G>C, c.989G>A, cardiac or vertebral defects, chromosome, clinodactyly of the index fingers, developmental delay, exons 1-8, hand hyperphalangism, heart defect, hyperphalangism, kynureninase, kynureninase deficiency, multisystemic syndrome, p.Arg330Gln, p.Arg428Trp, p.Trp109Ser, patient, patients, radial deviation, short stature, tryptophan, vertebral, cardiac, renal and limb defects, xanthurenic acid, xanthurenic aciduria
Author NameAffiliation
Nadja EhmkeCharite - Universitatsmedizin Berlin, Institute of Medical Genetics and Human Genetics, Germany Max Planck Institute for Molecular Genetics
Manuel HoltgreweBerlin Institute of Health, Germany Charite - Universitatsmedizin Berlin
John D OvertonRegeneron Pharmaceuticals Inc.
John D OvertonRegeneron Pharmaceuticals Inc.
Maximilian MuenkeNational Human Genome Research Institute, National Institutes of Health
Bj??rn Fischer-ZirnsakCharite - Universitatsmedizin Berlin, Institute of Medical Genetics and Human Genetics, Germany Max Planck Institute for Molecular Genetics, Germany Berlin-Brandenburg Center for Regenerative Therapies
Uwe KornakCharite - Universitatsmedizin Berlin, Institute of Medical Genetics and Human Genetics, Germany Max Planck Institute for Molecular Genetics, Germany Berlin-Brandenburg Center for Regenerative Therapies
Carlos R FerreiraAkdeniz University Medical School, National Human Genome Research Institute, National Institutes of Health
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Release 1.2