Analysis of a Chinese pedigree with trichorhinophalangeal syndrome derived from a missense mutation in the TRPS1 gene.

Autor:	Ye, D., Fei, Y., Sheng, Y.‐E., Qiao, J.‐J., Dong, F.‐Q.
Zdroj:	Clinical & Experimental Dermatology; Jun2017, Vol. 42 Issue 4, p432-434, 3p
Abstrakt:	The article describes the case of trichorhinophalangeal syndrome (TRPS) in a 78-year-old Chinese woman, her 50-year-old daughter, and 26-year-old grandson. It notes that the 78-year-old woman was presented with arthralgia and poor appetite, the similar characteristics of the patients, and their development of TRPS from a missense mutation in the TRPS Type 1 gene.
Databáze:	Complementary Index
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