Article
Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene.
Prenatal diagnosis - 1 Nov 2006
Lam Albert C F, Chan Daniel H C, Tong Tony M F, Tang Mary H Y, Lo Steven Y F, Lo Ivan F M, Lam Stephen T S
Abstract excerpt
We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22-week fetus. Two novel compound heterozygous mutations, 64T> A and 79G > T, were found in the highly conserved regions of the RMRP gene. Twenty-two heterozygous g.1018 T> C mutations, two homozygous g.1018 T> C mutations, two heterozygous insertion mutations g.799_g.800insC and one heterozygous...
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