Associated Papers
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK et al.
European Journal of Medical Genetics, 2024
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Al-Hamed MH et al.
Human Mutation, 2022
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.
Su W et al.
Bmc Medical Genetics, 2018
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
Smaili W et al.
Bmc Medical Genetics, 2017
Making extra teeth: Lessons from a TRPS1 mutation.
Kunotai W et al.
American Journal of Medical Genetics. Part A, 2017
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM et al.
European Journal of Medical Genetics, 2015
Select a paper to view details