Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders
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[摘  要]:

The otopalatodigital syndrome (OPD) spectrum disorders are a heterogeneous group of skeletal dysplasias caused by mutations in the X-linked gene, FLNA. All OPD spectrum disorders (otopalatodigital syndromes types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome) exhibit significant interfamilial variability in their expressivity, especially in female subjects. Factors contributing to this may include allelic heterogeneity, variation in the degree of skewing of X inactivation or, conceivably, mosaicism for the underlyi......更多

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[作  者]:Stephen P Robertson1, Sarah Thompson1, Timothy Morgan1, Muriel Holder-Espinasse3, Vé; ronique Martinot-Duquenoy4, Andrew O M Wilkie2 and Sylvie Manouvrier-Hanu3
[期  刊]:European Journal of Human Genetics
[I S S N]:1018-4813
[年,卷(期)]:2006,14(5)
[页  码]:549-554