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A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

✍ Scribed by Tae-Joon Cho; Kyung-Eun Lee; Sook-Kyung Lee; Su Jeong Song; Kyung Jin Kim; Daehyun Jeon; Gene Lee; Ha-Neui Kim; Hye Ran Lee; Hye-Hyun Eom; Zang Hee Lee; Ok-Hwa Kim; Woong-Yang Park; Sung Sup Park; Shiro Ikegawa; Won Joon Yoo; In Ho Choi; Jung-Wook Kim


Book ID
119184343
Publisher
American Society of Human Genetics
Year
2012
Tongue
English
Weight
374 KB
Volume
91
Category
Article
ISSN
0002-9297

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## We have characterized a familial form of osteogenesis imperfecta (OI) . Following the identification by ultrasound of short limbs and multiple fractures in a fetus at 25 weeks of gestation, the family was referred with a provisional diagnosis of severe OI. We detected subtle clinical and radiolo