Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome

American Journal of Human Genetics

Volumn 81, Issue 4, 2007, Pages 835-841

  Kaname, Tadashi ^a,j   Yanagi, Kumiko ^a   Chinen, Yasutsugu ^a   Makita, Yoshio ^b   Okamoto, Nobuhiko ^c   Maehara, Hiroki ^a   Owan, Ichiro ^a   Kanaya, Fuminori ^a   Kubota, Yoshiaki ^d   Oike, Yuichi ^d   Yamamoto, Toshiyuki ^e   Kurosawa, Kenji ^e   Fukushima, Yoshimitsu ^f,j   Bohring, Axel ^g   Opitz, John M ^h   Yoshiura, Ko Ichiro ^i,j   Niikawa, Norio ^i,j   Naritomi, Kenji ^a,j  

^a UNIVERSITY OF THE RYUKYUS   (Japan)

^b ASAHIKAWA MEDICAL COLLEGE   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^f SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g UNIVERSITY OF MÜNSTER   (Germany)

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

ⁱ NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^j JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN;

ARTICLE; C SYNDROME; CD96 GENE; CELL ADHESION; CELL GROWTH; CLINICAL ARTICLE; EXON; GENE; GENE DISRUPTION; GENE MUTATION; GENE TRANSLOCATION; HUMAN; KARYOTYPE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OPITZ SYNDROME; PRIORITY JOURNAL;

EID: 35348963513     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/522014     Document Type: Article

References (25)

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