Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

American Journal of Human Genetics

Volumn 71, Issue 5, 2002, Pages 1195-1199

  Al Baradie, Raidah ^a,c   Yamada, Koki ^b,c   St Hilaire, Cynthia ^b   Chan, Wai Man ^b   Andrews, Caroline ^b,c   McIntosh, Nathalie ^b,g   Nakano, Motoi ^b,c,h   Martonyi, E Jean ^d   Raymond, William R ^e   Okumura, Sada ^f   Okihiro, Michael M ^f   Engle, Elizabeth C ^a,b,c  

^a Boston University Medical Campus   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

^e MADIGAN ARMY MEDICAL CENTER   (United States)

^f STRAUB CLINIC AND HOSPITAL   (United States)

^g BRANDEIS UNIVERSITY   (United States)

^h Oita Nakamura Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

ABDUCENS NERVE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 20Q; CHROMOSOME MAP; CLINICAL ARTICLE; DUANE RETRACTION SYNDROME; EYE MOVEMENT DISORDER; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; MOTONEURON; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; PROTEIN FAMILY; SALL4 GENE;

EID: 18644369102     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/343821     Document Type: Article

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