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A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene

โœ Scribed by Jung Min Ko; Chong-Kun Cheon; Gu-Hwan Kim; Han-Wook Yoo


Publisher
Springer
Year
2008
Tongue
English
Weight
161 KB
Volume
168
Category
Article
ISSN
0340-6997

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## Abstract Antleyโ€“Bixler syndrome (ABS) is characterized by skeletal defects including craniosynostosis and radiohumeral synostosis. Although mutations in the __FGFR2__ gene have been found in some patients called ABS, genetic heterogeneity of this syndrome has been proposed. We have previously re