A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly
Contributeurs/tricesMakrythanasis, Periklis; Temtamy, Samia; Aglan, Mona S; Otaify, Ghada A; Antonarakis, Stylianos
Publié dansHuman mutation, vol. 35, no. 8, p. 959-963
Date de publication2014
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Citation (format ISO)
MAKRYTHANASIS, Periklis et al. A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. In: Human mutation, 2014, vol. 35, n° 8, p. 959–963. doi: 10.1002/humu.22597
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Article (Published version)
Identifiants
- PID : unige:42277
- DOI : 10.1002/humu.22597
- PMID : 24864036
ISSN du journal1059-7794