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Prospective Fumarate Hydratase Tumor Predisposition Syndrome Screening in Patients With Uterine Smooth Muscle Tumors: Age, Morphology, Fumarate Hydratase/S-(2-succino) Cysteine Immunohistochemistry, and Germline Testing.
Am J Surg Pathol
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Department of Pathology and Laboratory Medicine, The University of British Columbia, Vancouver BC, Canada.
Fumarate hydratase tumor predisposition syndrome (FHTPS) is caused by germline fumarate hydratase (FH) pathogenic variants (PVs). Most women with FHTPS develop FH-deficient (FHD) uterine leiomyomas (ULs), which arise 10 to 15 years earlier than aggressive FHD-renal cell carcinoma. We evaluate a previously proposed FHTPS screening strategy for women with ULs.
View Article and Find Full Text PDF"A quality of heart, of presence, and of really caring": toward affirmative intersex health communication in Canada.
Front Public Health
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Centre of Genomics and Policy, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC, Canada.
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Dias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report.
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Department of Reproductive Medicine, Zhejiang Provincial Hospital of Integrated Traditional Chinese and Western Medicine & Hangzhou Red Cross Hospital, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, China.
Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. The prevalence and incidence of this condition are currently unknown. We report an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a heterozygous pathogenic variant, c.
View Article and Find Full Text PDFAn investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.
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Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing, China.
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View Article and Find Full Text PDFIdentification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).
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Department of Orthopaedics, Xiangya Hospital of Central South University, Changsha, China.
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