A Novel Homozygous Mutation in FGFR3 Causes Tall Stature, Severe Lateral Tibial Deviation, Scoliosis, Hearing Impairment, Camptodactyly, and Arachnodactyly

Human Mutation

Volumn 35, Issue 8, 2014, Pages 959-963

  Makrythanasis, Periklis ^a,c   Temtamy, Samia ^b   Aglan, Mona S ^b   Otaify, Ghada A ^b   Hamamy, Hanan ^a   Antonarakis, Stylianos E ^a,c  

^a UNIVERSITY OF GENEVA   (Switzerland)

^b NATIONAL RESEARCH CENTRE   (Egypt)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Exome sequencing; FGFR3; Hearing impairment; Skeletal dysplasia; Tall stature

Indexed keywords

FGFR3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ADOLESCENT; ARACHNODACTYLY; BODY HEIGHT; CONSANGUINITY; EXON; GENE EXPRESSION; GENETICS; HAND MALFORMATION; HOMOZYGOTE; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PERCEPTION DEAFNESS; SCOLIOSIS; SEQUENCE ALIGNMENT; SIBLING; YOUNG ADULT;

ADOLESCENT; ARACHNODACTYLY; BASE SEQUENCE; BODY HEIGHT; CONSANGUINITY; EXONS; GENE EXPRESSION; HAND DEFORMITIES, CONGENITAL; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SCOLIOSIS; SEQUENCE ALIGNMENT; SIBLINGS; YOUNG ADULT;

EID: 84904419757     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22597     Document Type: Article

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