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The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
Lee, Beom Hee,Aggarwal, Aneel,Slavotinek, Anne,Edelmann, Lisa,Chen, Brenden,Desnick, Robert J British Medical Association 2017 Journal of medical genetics Vol.54 No.9
<P>Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral 'scarlike' facial lesions. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns. Although the genetic defects causing FFDD1 and FFDD2 remain unknown, recent studies identified defects causing FFDD3 and FFDD4. Here, the clinical phenotypes, genetic defects and inheritance of the four FFDD subtypes are described. In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and Barber-Say syndrome, are noted. Familiarity with the FFDDs by clinicians will further delineate the phenotypes and genetic/developmental defects of these dermal facial disorders.</P>
Identification of a Small Molecule Sensitizing DNA Repair Deficiency
Yongliang Zhang,Jennifer T. Fox,Gene Elliott,Ganesha Rai,Mengli Cai,Srilatha Sakamuru,Ruili Huang,Menghang Xia,Kyeryoung Lee,Hee Dong Park,Winfried Edelmann,David Maloney,Kyungjae Myung 한국실험동물학회 2015 한국실험동물학회 학술발표대회 논문집 Vol.2015 No.8