Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders
分享到:

[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

关闭

[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

同期文章

European Journal of Human Genetics

Y-chromosomal STR haplotype analysis reveals surname-associated strata in the Ea...
[作  者]:Uta-Dorothee Immel1, Michael Krawczak2, Jü rgen Udolph3, Angela Richter4, Heike Rodig5, Manfred Kleiber1 and Michael Klintschar1

European Journal of Human Genetics

European Journal of Human Genetics

European Journal of Human Genetics

A text-mining analysis of the human phenome
[作  者]:Marc A van Driel1, Jorn Bruggeman2, Gert Vriend1, Han G Brunner3 and Jack A M Leunissen2

European Journal of Human Genetics

European Journal of Human Genetics

Compound heterozygosity for two MSH6 mutations in a patient with early onset of ...
[作  者]:Jens Plaschke1,6, Michael Linnebacher2,6, Matthias Kloor2, Johannes Gebert2, Friedrich W Cremer3, Sigrid Tinschert4, Daniela E Aust5, Magnus von Knebel Doeberitz2 and Hans K Schackert1