Work

Duplication of Xq26.2-q27.1, includingSOX3, in a mother and daughter with short stature and dyslalia

Year: 2005

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.30910

Authors: Paweł Stankiewicz, Hannelore Thiele, Mike Schlicker, Andrea Cseke-Friedrich, Sylva Bartel-Friedrich, Svetlana A. Yatsenko, James R. Lupski, Ingo Hansmann

Institutions: Baylor College of Medicine, Martin Luther University Halle-Wittenberg, University Hospital in Halle, Texas Children's Hospital

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G2156526443, G2516091520, Chromosome Rearrangements and Mental Retardation, Baylor Intellectual and Developmental Disabilities Research Center

OpenAlex ID: W2022152645

FWCI: 1.443

Cites: 43

Cited by: 120

Related to: 10