Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review-Reference-Cited by-同舟云学术

Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review

Published:2021-03-06 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Pavinato Lisa¹²^ORCID,Trajkova Slavica¹^ORCID,Grosso Enrico³,Giorgio Elisa⁴^ORCID,Bruselles Alessandro⁵^ORCID,Radio Francesca Clementina⁶^ORCID,Pippucci Tommaso⁷^ORCID,Dimartino Paola⁸,Tartaglia Marco⁶^ORCID,Petlichkovski Aleksandar⁹^ORCID,De Rubeis Silvia¹⁰¹¹¹²¹³^ORCID,Buxbaum Joseph¹⁰¹¹¹²¹³¹⁴^ORCID,Ferrero Giovanni Battista¹⁵^ORCID,Keller Roberto¹⁶^ORCID,Brusco Alfredo¹³^ORCID

Affiliation:

1. Department of Medical Sciences University of Turin Turin Italy

2. Institute of Human Genetics and Center for Molecular Medicine Cologne University of Cologne Cologne Germany

3. Medical Genetics Unit Città della Salute e della Scienza University Hospital Turin Italy

4. Department of Molecular Medicine University of Pavia Pavia Italy

5. Department of Oncology and Molecular Medicine Istituto Superiore di Sanità Rome Italy

6. Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy

7. Medical Genetics Unit Polyclinic Sant'Orsola‐Malpighi University Hospital Bologna Italy

8. Department of Medical and Surgical Sciences University of Bologna Bologna Italy

9. Institute for Immunobiology and Human Genetics Faculty of Medicine, University “Sv. Kiril I Metodij” Skopje Macedonia

10. Seaver Autism Center for Research and Treatment Icahn School of Medicine at Mount Sinai New York New York USA

11. Department of Psychiatry Icahn School of Medicine at Mount Sinai New York New York USA

12. The Mindich Child Health and Development Institute Icahn School of Medicine at Mount Sinai New York New York USA

13. Friedman Brain Institute Icahn School of Medicine at Mount Sinai New York New York USA

14. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA

15. Department of Clinical and Biological Sciences, School of Medicine University of Turin Orbassano Torino Italy

16. Adult autism center, Mental Health Department Local Health Unit ASL Città di Torino Turin Italy

Funder

National Institute of Mental Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62157

Reference36 articles.

1. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

2. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

3. Wnt/β-Catenin Signaling and Disease

4. Enhanced tonic GABAA inhibition in typical absence epilepsy

5. The olfactory thalamus: Unanswered questions about the role of the mediodorsal thalamic nucleus in olfaction;Courtiol E.;Frontiers in Neural Circuits,2015

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