A new case of DOOR syndrome

• Autorzy: Wisniewska M , Siwinska Z , Felczak M , Wielkoszynski T , Krawczynski M , Lotos-Bielenska A
• Języki publikacji: EN

Abstrakty

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.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2008
• Tom: 49
• Numer: 1
• Opis fizyczny: p.101-103,fig.,ref.

Twórcy

autor

Wisniewska M

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznan, Poland

autor

Siwinska Z

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznan, Poland

autor

Felczak M

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznan, Poland

autor

Wielkoszynski T

• Chair and Department of Chemistry, Medical University of Silesia, Katowice, Poland

autor

Krawczynski M

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznan, Poland

autor

Lotos-Bielenska A

• Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Grunwaldzka 55, pav.15, 60-352 Poznan, Poland

Bibliografia

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