Associated Papers
Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.
Mota A et al.
Oncogene, 2022
35145232 (PubMed )
Supplement: 41388_2022_2221_MOESM3_ESM.xlsx › EEC-7
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
Cozma C et al.
Orphanet Journal of Rare Diseases, 2019
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Shashi V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.
Casas-Alba D et al.
Human Mutation, 2018
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
Youssefian L et al.
Bmc Medical Genetics, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.
Denadai R et al.
American Journal of Medical Genetics. Part A, 2012
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