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Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

✍ Scribed by Masaki Takagi; Saori Kaneko-Schmitt; Nobuhiro Suzumori; Gen Nishimura; Tomonobu Hasegawa

Book ID: 101447542
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 260 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34358

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We are grateful for Dr. Gorlin's comment on our report ''Atypical Radiological Findings in Achondroplasia With Uncommon Mutation of the Fibroblast Growth Factor Receptor-3 (FGFR-3) Gene (Gly to Cys Transition at Codon 375)' . Dr. Gorlin postulates that the atypical skeletal changes of the achondropl