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Your search keyword '"Rachel Hardy"' showing total 2 results
Start Over Author "Rachel Hardy" Publisher oxford university press (oup)
2 results on '"Rachel Hardy"'

1. Leydig Cell Tumor of the Testis in Tuberous Sclerosis: Lack of Second Hit Events

Author

David J. Kwiatkowski, Deirdre E. Donnelly, Charles Shepherd, Patrick J. Morrison, Izabela A. Malinowska, Rosemary Clarke, and Rachel Hardy

Subjects
Adult, Male, Clinical Genetics and Genetic Counseling, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pathology, medicine.medical_specialty, Leydig cell, Extramural, business.industry, medicine.disease, Tuberous sclerosis, medicine.anatomical_structure, Testicular Neoplasms, Oncology, Leydig Cell Tumor, Tuberous Sclerosis, Second hit, medicine, Humans, TSC1, TSC2, business
Abstract

This article presents the case of an adult patient with tuberous sclerosis complex who presented with large right benign and left malignant Leydig cell tumors. The tumors were examined to determine if they showed the classic hallmarks of TSC1/TSC2 involvement.

Published
2012

2. Constellation of Five Facial Features of Tuberous Sclerosis in a Child with a TSC2 1808A>G Mutation

Author

Shane McKee, Deirdre E. Donnelly, Rachel Hardy, Patrick J. Morrison, and Charles Shepherd

Subjects
Male, congenital, hereditary, and neonatal diseases and abnormalities, Clinical Genetics and Genetic Counseling, Cancer Research, Pathology, medicine.medical_specialty, business.industry, Tumor Suppressor Proteins, food and beverages, medicine.disease, nervous system diseases, Tuberous sclerosis protein, Tuberous sclerosis, Tumor suppressor proteins, Oncology, Tuberous Sclerosis, Mutation, Tuberous Sclerosis Complex 2 Protein, Mutation (genetic algorithm), medicine, Humans, TSC2, Child, business
Abstract

This article presents the case of an 8-year-old boy with a TSC2 1801A>G mutation who has five facial features of tuberous sclerosis complex.

Published
2012

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