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A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father

✍ Scribed by F. Forzano; M. Lituania; A. Viassolo; V. Superti-Furga; G. Wildhardt; B. Zabel; F. Faravelli

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 369 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32047

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