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Paper Details

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Genet Med
42
2020
C, ILFS2, NBAS, NBAS protein, NBAS-, Pelger-Hut anomaly, SOPH, Sec39, autosomal recessive disorder, biallelic variants, in-frame deletions, infantile liver failure syndrome type 2, missense variants, neuroblastoma-amplified sequence, optic atrophy, patient, patients, short stature
Author NameAffiliation
Fabian HauckDr. von Hauner Children's Hospital, University Hospital
Christoph KleinDr. von Hauner Children's Hospital, University Hospital
Johannes A MayrSalzburger Landeskliniken and Paracelsus Medical University
Patrick J McKiernanUniversity of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC
Irene ValenzuelaHospital Vall d'Hebron
Jerry VockleyUniversity of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC
Robert B RussellHeidelberg University
Robert B RussellHeidelberg University
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