Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Nature Genetics

Volumn 17, Issue 3, 1997, Pages 285-291

  Quaderi, Nandita A ^a   Schweiger, Susann ^b   Gaudenz, Karin ^c   Franco, Brunella ^a   Rugarli, Elena I ^a   Berger, Wolfgang ^b   Feldman, George J ^c   Volta, Manuela ^a   Andolfi, Grazia ^a   Gilgenkrantz, S ^d   Marion, Robert W ^e   Hennekam, Raoul C M ^f   Opitz, John M ^g   Muenke, Maximilian ^c   Ropers, H Hilger ^b,h   Ballabio, Andrea ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d Albert Einstein College of Medicine ^*

^e ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF AMSTERDAM   (Netherlands)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^h RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANUS ATRESIA; ARTICLE; CHROMOSOME INVERSION; CHROMOSOME XP; CLEFT LIP PALATE; GENE ISOLATION; GENE MUTATION; HUMAN; HYPERTELORISM; HYPOSPADIAS; MALFORMATION SYNDROME; PRIORITY JOURNAL;

EID: 16944365777     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1197-285     Document Type: Article

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