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WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes  Axel Bohring,

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Presentation on theme: "WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes  Axel Bohring,"— Presentation transcript:

1 WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes  Axel Bohring, Thomas Stamm, Christiane Spaich, Claudia Haase, Kerstin Spree, Ute Hehr, Mandy Hoffmann, Susanne Ledig, Saadettin Sel, Peter Wieacker, Albrecht Röpke  The American Journal of Human Genetics  Volume 85, Issue 1, Pages (July 2009) DOI: /j.ajhg Copyright © 2009 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees of 12 Patients with WNT10A-Related ED
Filled symbols indicate homozygous or compound heterozygous mutations; half-filled symbols indicate heterozygous mutations in individuals. “O” at the upper right part of a symbol indicates that the individual was not tested. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Distribution of Involved Ectodermal Structures in Heterozygous Mutated Males and Females with Phenotypic Manifestation The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

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