Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: A response to Heuertz et al

European Journal of Human Genetics

Volumn 16, Issue 3, 2008, Pages 277-278

  Friez, Michael J ^a   Wilson, Joseph A P ^a  

^a GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ACHONDROPLASIA; CLINICAL FEATURE; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; HYPOCHONDROPLASIA; LETTER; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

ACHONDROPLASIA; EXONS; FEMALE; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; MALE; MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3;

EID: 39749136267     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201931     Document Type: Letter

References (2)

1. Heuertz S, Le Merrer M, Zabel B et al: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet 2006; 14: 1240-1247.
2. Friez M, Toburen A, Clarkson K, Longshore J: A novel missense FGFR3 mutation associated with achondroplasia. Eur J Hum Genet 2001; 10 (Suppl 1): 416 [poster P1604].