YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse-Reference-Cited by-同舟云学术

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Published:2023-07 Issue:7 Volume:25 Page:100835
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Denommé-Pichon Anne-Sophie^ORCID,Collins Stephan C.,Bruel Ange-Line,Mikhaleva Anna,Wagner Christel,Vancollie Valerie E.,Thomas Quentin,Chevarin Martin,Weber Mathys,Prada Carlos E.,Overs Alexis,Palomares-Bralo María,Santos-Simarro Fernando,Pacio-Míguez Marta,Busa Tiffany,Legius Eric,Bacino Carlos A.,Rosenfeld Jill A.,Le Guyader Gwenaël,Egloff Matthieu,Le Guillou Xavier,Mencarelli Maria Antonietta,Renieri Alessandra,Grosso Salvatore,Levy Jonathan,Dozières Blandine,Desguerre Isabelle,Vitobello Antonio,Duffourd Yannis,Lelliott Christopher J.,Thauvin-Robinet Christel,Philippe Christophe,Faivre Laurence,Yalcin Binnaz

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference38 articles.

1. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3;Chong;Hum Mol Genet,1997

2. Clinical and molecular diagnosis of Miller-Dieker syndrome;Dobyns;Am J Hum Genet,1991

3. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly;Ledbetter;Am J Hum Genet,1992

4. The Miller-Dieker syndrome;Jones;Pediatrics,1980

5. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3;Cardoso;Am J Hum Genet,2003

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