A new case of DOOR syndrome

• Authors: M. Wisniewska , Z. Siwinska , M. Felczak , T. Wielkoszynski , M. Krawczynski , A. Latos-Bielenska
• Languages of publication: EN

Abstracts

EN

We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation

Keywords

EN

DOOR SYNDROME; FEINMESSER-ZELIG SYNDROME; MENTAL RETARDATION; ONYCHODYSTROPHY; OSTEODYSTROPHY

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2008
• Volume: 49
• Issue: 1
• Pages: 101-103

Contributors

author

M. Wisniewska

author

Z. Siwinska

author

M. Felczak

author

T. Wielkoszynski

author

M. Krawczynski

author

A. Latos-Bielenska

• Document Type: ARTICLE
• Publication order reference: M. Wisniewska, Chair and Department of Medical Genetics, Grunwaldzka 55, pav.15, 60?352 Poznan; Poland