DOOR syndrome: Clinical report, literature review and discussion of natural history

American Journal of Medical Genetics, Part A

Volumn 143, Issue 23, 2007, Pages 2821-2831

  James, Aaron W ^a,d   Miranda, Suzette G ^a   Culver, Kathy ^b   Hall, Bryan D ^c   Golabi, Mahin ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CALIFORNIA PACIFIC MEDICAL CENTER   (United States)

^c UNIVERSITY OF KENTUCKY   (United States)

^d NONE   (United States)

Author keywords

2 oxoglutarate; DOOR syndrome; Mental retardation; Metabolic syndrome; Onychodystrophy; Osteodystrophy; Sensorineural deafness

Indexed keywords

2 OXOGLUTARIC ACID;

ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; DISEASE COURSE; GENETIC DISORDER; HEARING IMPAIRMENT; HISTORY OF MEDICINE; HUMAN; MEDICAL LITERATURE; MENTAL DEFICIENCY; NAIL DYSTROPHY; OSTEODYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SYNDROME DOOR;

ABNORMALITIES, MULTIPLE; BONE DISEASES; DEAFNESS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; NAIL DISEASES; PHENOTYPE; SYNDROME;

EID: 36849090640     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32054     Document Type: Article

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