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Case Reports
. 2012 Apr;21(2):87-90.
doi: 10.1097/MCD.0b013e32834e9248.

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability

Jan A Sidler  1 , Isabel Filges, Nemya Boesch, Gian Paolo Ramelli, Benno Röthlisberger, Andreas R Huber, Sevgi Tercanli, Lucio Bronz, Peter Miny, Karl Heinimann
Affiliations
Case Reports

TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability

Jan A Sidler et al. Clin Dysmorphol. 2012 Apr.
No abstract available

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