Mutations in GDF6 are associated with ve
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May Tassabehji; Zhi Ming Fang; Emma N. Hilton; Julie McGaughran; Zhongming Zhao;
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Article
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2008
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John Wiley and Sons
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English
β 602 KB
Klippel-Feil syndrome (KFS) is a congenital disorder of spinal segmentation distinguished by the bony fusion of anterior/cervical vertebrae. Scoliosis, mirror movements, otolaryngological, kidney, ocular, cranial, limb, and/or digit anomalies are often associated. Here we report mutations at the GDF