Opitz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain

American Journal of Human Genetics

Volumn 63, Issue 3, 1998, Pages 703-710

  Gaudenz, Karin ^a   Roessler, Erich ^a,b   Quaderi, Nandita ^c   Franco, Brunella ^c   Feldman, George ^a   Gasser, David L ^a   Wittwer, Bärbel ^e   Montini, Eugenio ^c   Opitz, John M ^f   Ballabio, Andrea ^c,d   Muenke, Maximilian ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

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

^d VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^e UNIVERSITY OF MÜNSTER   (Germany)

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

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

AMINO ACID SEQUENCE; ANUS ATRESIA; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME XP; CLEFT LIP PALATE; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ESOPHAGUS MALFORMATION; FEMALE; GENE CLUSTER; GENE MUTATION; HUMAN; HUMAN CELL; HYPERTELORISM; HYPOSPADIAS; LARYNX DISORDER; MALE; MALFORMATION SYNDROME; OPITZ SYNDROME; PRIORITY JOURNAL; TRACHEA DISEASE;

EID: 0032231338     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302010     Document Type: Article

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