Work

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations

Year: 1998

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics

DOI: 10.1002/(sici)1096-8628(19981116)80:3<273::aid-ajmg19>3.0.co;2-6

Authors: Bruno Delobel, Val�rie Delannoy, Giorgio Pini, Michele Zapella, Marc Tardieu, Louis Vall�e, Marie F. Croquette

Institutions: Centre National de la Recherche Scientifique, Institut Pasteur de Lille, Multi-omique et physiopathologie des maladies métaboliques, Institut de Biologie de Lille, Bicêtre Hospital, Centre Hospitalier Universitaire de Lille

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4242513333

FWCI: 0.157

Cites: 32

Cited by: 29

Related to: 10