12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A-Reference-Cited by-同舟云学术

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A

Published:2020-07-06 Issue:9 Volume:182 Page:2133-2138
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Niclass Tanguy¹^ORCID,Le Guyader Gwenael¹²,Beneteau Claire³,Joubert Madeleine⁴,Pizzuti Antonio⁵,Giuffrida Maria Grazia⁶,Bernardini Laura⁶,Gilbert‐Dussardier Brigitte¹²^ORCID,Bilan Frederic¹²,Egloff Matthieu¹⁷^ORCID

Affiliation:

1. Department of Medical GeneticsCentre Hospitalier Universitaire de Poitiers Poitiers France

2. EA 3808 NEUVACODUniversité de Poitiers Poitiers France

3. Department of Medical GeneticsCentre Hospitalier Universitaire de Nantes Nantes France

4. Department of Anatomic and Fetal PathologyCentre Hospitalier Universitaire de Nantes Nantes France

5. Department of Medical GeneticsPoliclinico di Roma Rome Italy

6. Fondazione IRCCS Casa Sollievo della SofferenzaCytogenetics Unit San Giovanni Rotondo FG Italy

7. Laboratoire de Neurosciences Experimentales et CliniquesINSERM Poitiers France

Funder

The University Hospital of Poitiers

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61734

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4. SYT1-associated neurodevelopmental disorder: a case series

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