Phenotypic characterization of seven individuals with <scp>Marbach–Schaaf</scp> neurodevelopmental syndrome-Reference-Cited by-同舟云学术

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

Published:2022-07-05 Issue:9 Volume:188 Page:2627-2636
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Marbach Felix¹,Lipska‐Ziętkiewicz Beata S.²,Knurowska Agata³,Michaud Vincent⁴,Margot Henri⁴,Lespinasse James⁵,Tran Mau Them Frédéric⁶⁷,Coubes Christine⁸,Park Joohyun⁹,Grosch Sarah⁹,Roggia Cristiana⁹,Grasshoff Ute⁹,Kalsner Louisa¹⁰^ORCID,Denommé‐Pichon Anne‐Sophie⁶⁷^ORCID,Afenjar Alexandra¹¹,Héron Bénédicte¹²,Keren Boris¹³,Caro Pilar¹,Schaaf Christian P.¹¹⁴^ORCID

Affiliation:

1. Institute of Human Genetics Heidelberg University Heidelberg Germany

2. Centre for Rare Diseases, Clinical Genetics Unit, Department of Biology and Genetics Medical University of Gdańsk Gdańsk Poland

3. Department of Radiology Medical University of Gdańsk Gdańsk Poland

4. University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux Service de Génétique Médicale Bordeaux France

5. CH‐Chambéry, Génétique Chromosomique Chambéry France

6. Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares CHU Dijon Bourgogne Dijon France

7. INSERM UMR1231 Génétique des Anomalies du Développement GAD Dijon France

8. Service de Génétique Clinique, Département de Génétique Médicale Maladies Rares et Médecine Personnalisée, CHU de Montpellier Montpellier France

9. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

10. Departments of Neurology and Pediatrics Connecticut Children's Medical Center and University of Connecticut School of Medicine Farmington Connecticut USA

11. APHP, Sorbonne Université, Centre de Référence Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale Hôpital Trousseau Paris France

12. Sorbonne Université, Service de Neuropédiatrie‐Pathologie du développement Hôpital Trousseau AP‐HP.SU, FHU I2D2 Paris France

13. APHP, Département de Génétique Groupe Hospitalier Pitié Salpêtrière Paris France

14. Department of Molecular and Human Genetics Baylor College of Medicine Houston USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62884

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