Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.
In classical achondroplasia (Ach), a glycine residue is replaced by an arginine at codon 380 in exon 10 of the fibroblast growth factor receptor 3 gene (FGFR3). Here we report on a mother and daughter with hypochondroplasia (Hch) caused by a new heterozygous double mutation (1138_1139GG > AA)...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2007
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