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- W2004014964 abstract "Tricho-rhino-phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation involving 8q24.11. It is very likely that the 8q24 translocation breakpoint is physically linked to the TRP gene(s), thereby facilitating future efforts to clone the TRP gene(s)." @default.
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- W2004014964 date "1993-02-15" @default.
- W2004014964 modified "2023-09-26" @default.
- W2004014964 title "Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24" @default.
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- W2004014964 doi "https://doi.org/10.1002/ajmg.1320450411" @default.
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