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A Genetic Heterogeneity of Renpenning Syndrome Mapped to Chromosome Xq21-Xqter
Cui, Bin,Sun, Yuming,Sun, Yuqin,Shi, Yuefeng,Pei, Gang,Kong, Xiangyin,Hu, Landian 한국유전학회 2004 Genes & Genomics Vol.26 No.1
Renpenning sysndrome is an X-linked mental retardation associated with short stature, moderate microcephaly, unremakdable facies, and no other neurological abnormality. Renpenning first reported this disorder in a Mennonite family, and using this family, Renpenning Syndrome (RENS) has been mapped to Xp11.2-p11.4 Xu Cs found a Chinses family with an X-linked hereditary disease, and the clinical phenotype is similar to RENS. Recently, we performed the linkage analysis, and the result has shown ht egenetic heterogeneity of Renpenning Syndrome: a suggestive novel locus mapped to Xq21-Xqter in this Chinese family.