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A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease |
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| Authors: | Ming Chen Shou-Jen Kuo Chin-San Liu Wei-Liang Chen Tsang-Ming Ko Tze-Ho Chen Shun-Ping Chang Chien-Hao Huang Yih-Yuan Chang Bao-Tyan Wang |
| Institution: | 1. Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan, Republic of China;2. Department of Medical Research, and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan, Republic of China;3. Department of Radiology, Changhua Christian Hospital, Changhua, Taiwan, Republic of China;4. Department of Obstetrics and Gynecology, and Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, Republic of China
Genephile Molecular Diagnostic Laboratory, Taipei, Taiwan, Republic of China;5. Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan, Republic of China Department of Medical Research, and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan, Republic of China;6. Genephile Molecular Diagnostic Laboratory, Taipei, Taiwan, Republic of China |
| Abstract: | |
| Keywords: | holoprosencephaly missense mutation moyamoya disease polymorphism TGIF |