A new case of DOOR syndrome

Journal of Applied Genetics

Volumn 49, Issue 1, 2008, Pages 101-103

  Wiśniewska, Marzena ^a,c   Siwińska, Zofia ^a   Felczak, Michał ^a   Wielkoszyński, Tomasz ^b   Krawczyński, Maciej ^a   Latos Bieleńskad, Anna ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b MEDICAL UNIVERSITY OF SILESIA   (Poland)

^c Pav15 ^*  (Poland)

Author keywords

Deafness; DOOR syndrome; DOORS syndrome; Feinmesser Zelig syndrome; Mental retardation; Onychodystrophy; Osteodystrophy

Indexed keywords

EID: 39449121625     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03195254     Document Type: Article

References (9)

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2. Cantwell RJ, 1975. Congenital sensori-neural deafness associated with onycho-osteodystrophy and mental retardation (D.O.O.R. syndrome). Hum Genet 26: 261-265.
3. Feinmesser M, Zelig S, 1961. Congenital deafness associated with onychodystrophy. Arch Otolaryng 74: 507-598.
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6. Lin HJ, Kakkis ED, Eteson DJ, Lachman RS, 1993. DOOR Syndrome (Deafness, Onycho-Osteodystrophy, Mental Retardation): a new patient and delineation of neurologic variability among recessive cases. Am J Med Genet 47: 534-539.
7. Patton MA, Krywawych S, Winter RM, Brenton DP, Baraitser M, 1987. DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients. Am J Med Genet 26: 207-215.
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