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Case Reports
. 1987 Apr;31(4):273-5.
doi: 10.1111/j.1399-0004.1987.tb02806.x.

A final word on the tricho-rhino-phalangeal syndromes

E M Bühler, U K Bühler, C Beutler, R Fessler
Case Reports

A final word on the tricho-rhino-phalangeal syndromes

E M Bühler et al. Clin Genet. 1987 Apr.

Abstract

Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.

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