FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly

American Journal of Medical Genetics, Part A

Volumn 143, Issue 7, 2007, Pages 694-698

  Nishimura, Akira ^a   Sakai, Haruya ^a   Ikegawa, Shiro ^b   Kitoh, Hiroshi ^c   Haga, Nobuyuki ^d   Ishikiriyama, Satoshi ^d   Nagai, Toshiro ^e   Takada, Fumio ^f   Ohata, Takako ^a,f   Tanaka, Fumihiko ^g   Kamasaki, Hotaka ^h   Saitsu, Hirotomo ^a   Mizuguchi, Takeshi ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b RIKEN   (Japan)

^c NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^e DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f KITASATO UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^g TEIKYO UNIVERSITY   (Japan)

^h SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Congenital contractural arachnodactyly (Beals syndrome); FBN1; FBN2; TGFBR1; TGFBR2

Indexed keywords

ADOLESCENT; ADULT; ARACHNODACTYLY; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FBN1 GENE; FBN2 GENE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; TGFBR1 GENE; TGFBR2 GENE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA;

EID: 34247194567     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31639     Document Type: Article

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