Associated Papers
Analysis of a Chinese pedigree with trichorhinophalangeal syndrome derived from a missense mutation in the TRPS1 gene.
Ye D et al.
Clinical and Experimental Dermatology, 2017
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM et al.
European Journal of Medical Genetics, 2015
TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability.
Sidler JA et al.
Clinical Dysmorphology, 2012
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