Research review oral-facial-digital syndromes: Review and diagnostic guidelines
Research review oral-facial-digital syndromes: Review and diagnostic guidelines
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DOI：
10.1002/ajmg.a.32032
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发表时间：
2007-12-15
影响因子：
2
通讯作者：
Neri, Giovanni
中科院分区：
文献类型：
--
作者：
Gurrieri, Fiorella;Franco, Brunella;Neri, Giovanni
口腔-面部-手指综合征(OFDS)的结果是一种形态发生障碍的多效性效应，几乎总是影响到口腔、面部和手指。可以涉及其他器官系统，定义特定类型的OFD。到目前为止，根据其典型的临床表现，已区分出13种类型。提供了这些类型的最新列表，并讨论了最近的分子数据。(C)2007年Wiley-Liss，Inc.
The oral-facial-digital syndromes (OFDS) result front the pleiotropic effect of a morphogenetic impairment affecting almost invariably the rnouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. An updated list of these types is provided and recent molecular data are discussed. (c) 2007 Wiley-Liss, Inc.