Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression

Trichorhinophalangeal syndrome type I (TRPS I) is a rare autosomal dominant syndrome caused by haploinsufficiency of TRPS1 due to point mutations or deletions. Here we report the first familial TRPS I due to a t(8;13)(q23.3;q21.31) translocation breakpoint <100 kb from the 5’ end of TRPS1. Based...

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Bibliographic Details
Main Author: David, Dezső (author)
Other Authors: Marques, Bárbara (author), Ferreira, Cristina (author), Araújo, Carlos (author), Vieira, Luís (author), Soares, Gabriela (author), Dias, Cristina (author), Pinto, Maximina (author)
Format: article
Language:eng
Published: 2014
Subjects:
Doenças Genéticas
Trichorhinophalangeal Syndrome
t(8;13)(q23.3;q21.31)
Gene Expression
Online Access:http://hdl.handle.net/10400.18/2229
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2229

Internet

http://hdl.handle.net/10400.18/2229

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