Xiaoli Wang
NHC Key Laboratory Of Diagnosis And Treatment Of Thyroid Diseases
Shenyang, 110001, China
Shenyang, 110001, China
Last Updated: 09/26/2026
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Found 9 publications
Novel frameshift variant in the β subunit of epithelial sodium channels uncovers Liddle syndrome in a young patient with metabolic syndrome: a case report with review of literature.
Journal: Endocrine journal
Published: January 14, 2026
Case Report: A novel mutation in TNFAIP3 in a patient with type 1 diabetes mellitus and haploinsufficiency of A20.
Journal: Frontiers in endocrinology
Published: December 25, 2022
Early-Onset Diabetes Mellitus in Chromosome 8p11.2 Deletion Syndrome Combined With Becker Muscular Dystrophy - A Case Report.
Journal: Frontiers in endocrinology
Published: April 07, 2022
Multiple endocrine neoplasia type 1: a new germline "homozygous" variant (c.201delC) caused by detection errors.
Journal: Hereditary cancer in clinical practice
Published: October 18, 2021
Lumbar Scheuermann's disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report.
Journal: BMC musculoskeletal disorders
Published: January 30, 2021
Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report.
Journal: Journal of diabetes investigation
Published: April 29, 2020
Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome.
Journal: Frontiers in endocrinology
Published: August 01, 2018
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
Journal: Journal of ovarian research
Published: January 30, 2017
Showing 1-9 of 9
Last Updated: 09/26/2026