Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita-Reference-Cited by-同舟云学术

Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Published:2019-08-21 Issue:12 Volume:40 Page:2270-2285
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Frints Suzanna G.M.¹²^ORCID,Hennig Friederike³,Colombo Roberto⁴⁵,Jacquemont Sebastien⁶,Terhal Paulien⁷,Zimmerman Holly H.⁸,Hunt David⁹,Mendelsohn Bryce A.¹⁰,Kordaß Ulrike¹¹,Webster Richard¹²,Sinnema Margje¹²,Abdul‐Rahman Omar¹³,Suckow Vanessa³,Fernández‐Jaén Alberto¹⁴,Roozendaal Kees¹,Stevens Servi J.C.¹²^ORCID,Macville Merryn V.E.¹²^ORCID,Al‐Nasiry Salwan¹⁵,Gassen Koen⁷,Utzig Norbert¹⁶,Koudijs Suzanne M.¹⁷,McGregor Lesley¹⁸,Maas Saskia M.¹⁹,Baralle Diana⁹²⁰,Dixit Abhijit²¹,Wieacker Peter²²,Lee Marcus²³,Lee Arthur S.²⁴²⁵^ORCID,Engle Elizabeth C.²⁴²⁵²⁶²⁷^ORCID,Houge Gunnar²⁸,Gradek Gyri A.²⁸,Douglas Andrew G.L.⁹²⁹,Longman Cheryl³⁰,Joss Shelagh³⁰,Velasco Danita³¹,Hennekam Raoul C.³²^ORCID,Hirata Hiromi³³,Kalscheuer Vera M.³^ORCID

Affiliation:

1. Department of Clinical GeneticsMaastricht University Medical Center⁺ azM, Maastricht The Netherlands

2. Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center⁺Maastricht University Maastricht The Netherlands

3. Research Group Development and DiseaseMax Planck Institute for Molecular Genetics Berlin Germany

4. Catholic University of the Sacred Heart Rome Italy

5. Center for the Study of Rare Inherited Diseases (CeSMER)Niguarda Ca' Granda Metropolitan Hospital Milan Italy

6. Service de Génétique Médicale, CHUV Lausanne Switzerland

7. Laboratories, Pharmacy and Biomedical Genetics DivisionUniversity Medical Centre Utrecht Utrecht The Netherlands

8. Department of Pediatrics, Division of Medical GeneticsUniversity of Mississippi Medical Center Jackson Mississippi

9. Wessex Clinical Genetics ServiceUniversity Hospital Southampton NHS Foundation Trust Southampton UK

10. Division of Genetics, Department of PediatricsUniversity of California San Francisco California

11. MVZ für Humangenetik und Molekularpathologie GmbH Greifswald Germany

12. The Department of Neurology and NeurosurgeryThe Children’s Hospital at Westmead Westmead NSW Australia

13. Munroe‐Meyer Institute for Genetics & RehabilitationUniversity of Nebraska Medical Center Omaha Nebraska

14. Hospital Universitario QuirónsaludUniversidad Europea de Madrid Madrid Spain

15. Department of Obstetrics and Gynecology, Prenatal Diagnostics & TherapyMaastricht University Medical Center⁺ Maastricht The Netherlands

16. Klinik für Kinder‐ und JugendmedizinUniversitätsmedizin Greifswald Greifswald Germany

17. Department of NeurologyMaastricht University Medical Center⁺ Maastricht The Netherlands

18. SA Clinical Genetics ServiceWomen's and Children's Hospital North Adelaide SA Australia

19. Department of Clinical GeneticsAmsterdam UMC Amsterdam The Netherlands

20. Faculty of MedicineUniversity of Southampton Southampton UK

21. City Hospital CampusNottingham University Hospitals NHS Trust Nottingham UK

22. Institute of Human GeneticsWestfälische Wilhelms Universität Münster Münster Germany

23. Department of Pediatrics, Division of Pediatric NeurologyUniversity of Mississippi Medical Center Jackson Mississippi

24. Department of NeurologyBoston Children’s Hospital and Harvard Medical School Boston Massachusetts

25. Broad Institute of MIT and Harvard Cambridge Massachusetts

26. Department of OphthalmologyBoston Children’s Hospital and Harvard Medical School Boston Massachusetts

27. Howard Hughes Medical Institute Chevy Chase Maryland

28. Department of Medical GeneticsHaukeland University Hospital Bergen Norway

29. Human Development and Health, Faculty of MedicineUniversity of Southampton UK

30. West of Scotland Regional Genetic CentreQueen Elizabeth University Hospital Glasgow Scotland UK

31. Department of Pediatrics, Munroe‐Meyer Institute for Genetics & RehabilitationUniversity of Nebraska Medical Center Omaha Nebraska

32. Department of PediatricsAmsterdam UMC Amsterdam The Netherlands

33. Department of Chemistry and Biological ScienceCollege of Science and Engineering, Aoyama Gakuin University Sagamihara Japan

Funder

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

National Heart, Lung, and Blood Institute

National Eye Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23841

Reference45 articles.

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2. matchbox: An open-source tool for patient matching via the Matchmaker Exchange

3. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

4. An assay for X inactivation based on differential methylation at the fragile X locus,FMR1

5. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

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