Delineation of the clinical profile of <scp> <i>CNOT2</i> </scp> haploinsufficiency and overview of the <scp>IDNADFS</scp> phenotype-Reference-Cited by-同舟云学术

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

Published:2022-11-24 Issue:2 Volume:103 Page:156-166
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Niceta Marcello¹²^ORCID,Pizzi Simone¹,Inzana Francesca³,Peron Angela⁴⁵^ORCID,Bakhtiari Somayeh⁶⁷,Nizon Mathilde⁸,Levy Jonathan⁹^ORCID,Mancini Cecilia¹,Cogné Benjamin¹⁰,Radio Francesca Clementina¹^ORCID,Agolini Emanuele¹¹^ORCID,Cocciadiferro Dario¹¹,Novelli Antonio¹¹,Salih Mustafa A.¹²¹³,Recalcati Maria Paola¹⁴,Arancio Rosangela¹⁵,Besnard Marianne¹⁶,Tabet Anne‐Claude¹⁷¹⁸,Kruer Michael C.⁷,Priolo Manuela¹⁹,Dallapiccola Bruno¹,Tartaglia Marco¹^ORCID

Affiliation:

1. Genetics and Rare Diseases Bambino Gesù Children's Hospital, IRCCS Rome Italy

2. Department of Pediatrics Sapienza University Rome Italy

3. Genetic Counseling Service Regional Hospital of Bolzano Bolzano Italy

4. Medical Genetics ASST Santi Paolo e Carlo, Ospedale San Paolo Milan Italy

5. Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City Utah USA

6. Pediatric Movement Disorders Program, Division of Pediatric Neurology Barrow Neurological Institute, Phoenix Children's Hospital Phoenix Arizona USA

7. Departments of Child Health, Neurology, and Cellular and Molecular Medicine, and Program in Genetics University of Arizona College of Medicine – Phoenix Phoenix Arizona USA

8. CHU Nantes, Service de Génétique Médicale L'institut du thorax, INSERM, CNRS, UNIV Nantes Nantes France

9. Genetics Department AP‐HP, Robert‐Debré University Hospital Paris France

10. Laboratoire de Génétique Moléculaire CHU de Nantes Nantes France

11. Translational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

12. Neurology Division, Department of Pediatrics College of Medicine, King Saud University Riyadh Saudi Arabia

13. Department of Pediatrics College of Medicine, Almughtaribeen University Khartoum Sudan

14. Medical Cytogenetics Laboratory Istituto Auxologico Italiano IRCCS Cusano Milanino Italy

15. Clinica Pediatrica Ospedale San Paolo, ASST Santi Paolo Carlo Milan Italy

16. Service de Néonatologie Centre Hospitalier de Polynésie Française Papeete French Polynesia

17. Human Genetics and Cognitive Functions Institut Pasteur, UMR3571 CNRS, Université de Paris Paris France

18. Cytogenetic Unit Robert Debré Hospital, APHP Paris France

19. UOSD Genetica Medica Grande Ospedale Metropolitano “Bianchi‐Melacrino‐Morelli” Reggio Calabria Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14247

Reference32 articles.

1. New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

2. Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1

3. Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

4. Reassessment of the 12q15 deletion syndrome critical region

5. CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

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