Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

Clinical Genetics

Volumn 75, Issue 2, 2009, Pages 150-156

  Almeida, M R ^a   Campos Xavier, A B ^a   Medeira, A ^b   Cordeiro, I ^b   Sousa, A B ^b   Lima, M ^c   Soares, G ^c   Rocha, M ^c   Saraiva, J ^d   Ramos, L ^d   Sousa, S ^d   Marcelino, J P ^d   Correia, A ^d   Santos, Heloisa G ^a,b  

^a Instituto de Medicina Molecular   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c Centro de Genética Médica Jacinto de Magalhães   (Portugal)

^d CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

Achondroplasia; FGFR3; Hypochondroplasia; Muenke Syndrome; Skeletal dysplasias

Indexed keywords

ARGININE; ASPARAGINE; CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GLUTAMIC ACID; GLYCINE; LYSINE; SERINE; TYROSINE;

ACHONDROPLASIA; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BONE DYSPLASIA; CHILD; CRANIOFACIAL SYNOSTOSIS; DIAGNOSTIC ERROR; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; HYPOCHONDROPLASIA; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; OCULODENTODIGITAL SYNDROME; PHENOTYPE; POINT MUTATION; PORTUGAL; PRIORITY JOURNAL; THANATOPHORIC DWARFISM;

EID: 58849084644     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01123.x     Document Type: Article

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