Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation
- 期刊名称PLoS ONE
- 作者Müller, Eva; Dunstheimer, Desiree; Klammt, Jürgen; Friebe, Daniela; Kiess, Wieland; Kratzsch, Jürgen; Kruis, Tassilo; Laue, Sandy; Pfäffle, Roland; Wallborn, Tillmann; Heidemann, Peter H.; Waki, Hironori
- 卷第7卷
- 期第5期
- 电子ISSN1932-6203
- 文件大小959.42KB
- 发表时间2012-5-31
- DOI10.1371/journal.pone.0038220
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