Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

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Title: Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Authors: Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. sonja.neuser@medizin.uni-leipzig.de., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schwan A; MVZ Dr. Eberhard & Partner Dortmund, Dortmund, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Döring J; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany., Syrbe S; Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany., Plassmann M; Praxis für Pränatalmedizin, Dortmund, Germany., Rohde S; Department of Radiology and Neuroradiology, Klinikum Dortmund, Dortmund, Germany., Roth C; Department for Pediatric Radiology, University of Leipzig Medical Center, Leipzig, Germany., Rehder H; Institute of Medical Genetics, Medical University Vienna, Vienna, Austria.; Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany., Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Le Duc D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Bermúdez-Guzmán L; Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San José, Costa Rica., Leal A; Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San José, Costa Rica., Schoner K; Institute of Pathology, Department of Fetal Pathology, Philipps University Marburg, Marburg, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. bernt.popp.md@gmail.com.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 101-110. Date of Electronic Publication: 2021 Oct 25.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-021-00982-y