Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

✍ Scribed by Camera, Gianni ;Baldi, Maurizia ;Strisciuglio, Giuseppe ;Concolino, Daniela ;Mastroiacovo, Pierpaolo ;Baffico, Maria

• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 260 KB
• Volume: 104
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.10092