Case reports of familial non-autoimmune hyperthyroidism in two Malaysian families due to germline-activating mutations in the thyrotropin receptor gene
Hyperthyroidism occurs less commonly than hypothyroidism in children. Hyperthyroidism in children is mostly due to autoimmunity, predominantly as a result of Graves' disease. Non-autoimmune hyperthyroidism (NAH), caused by activating mutations in the thyroid-stimulating hormone receptor (TSHR)...
Published in: | US Endocrinology |
---|---|
Main Author: | Nor N.S.M.; Ling W.L.; Ali J.M. |
Format: | Article |
Language: | English |
Published: |
Touch Briefings
2020
|
Online Access: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85086118515&doi=10.17925%2fuse.2020.16.1.42&partnerID=40&md5=d3814ed6955022d07764e952230b6645 |
Similar Items
-
A case report of heterozygous familial hypercholesterolaemia with LDLR gene mutation complicated by premature coronary artery disease detected in primary care
by: Abdul-Halim M.A.Z.; Abdul-Hamid H.; Baharudin N.; Mohamed-Yassin M.-S.; Kasim S.S.; Nawawi H.; Qureshi N.; Ramli A.S.
Published: (2024) -
Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene
by: Ali E.Z.; Zakaria Y.; Mohd Radzi M.A.; Ngu L.H.; Jusoh S.A.
Published: (2018) -
Homozygous familial hypercholesterolemia
by: Alicezah M.K.; Razali R.; Rahman T.; Hoh B.P.; Suhana N.H.; Muid S.; Nawawi H.M.; Koshy M.
Published: (2014) -
Heterozygous familial hypercholesterolaemia in a pair of identical twins: A case report and updated review
by: Mohd Nor N.S.; Al-Khateeb A.M.; Chua Y.-A.; Mohd Kasim N.A.; Mohd Nawawi H.
Published: (2019) -
The Scale Validation of Family Takāful Awareness: An Exploratory Factor Analysis
by: Arifin J.; Ghazali P.L.; Noor N.S.M.; Razak R.A.; Muhammad H.
Published: (2024)