Associated Papers
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.
Gheorghe AM et al.
International Journal of Molecular Sciences, 2024
A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report.
Yang D et al.
Diagnostic Pathology, 2022
Parafibromin Abnormalities in Ossifying Fibroma.
Costa-Guda J et al.
Journal of the Endocrine Society, 2021
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Piton A et al.
Molecular Psychiatry, 2011
Carney complex and other conditions associated with micronodular adrenal hyperplasias.
Almeida MQ et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.
Saunders CJ et al.
American Journal of Medical Genetics. Part A, 2009
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