A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism

CONTEXT: Isolated central congenital hypothyroidism (CCH) is rare and evades diagnosis on TSH-based congenital hypothyroidism (CH) screening programs in the United Kingdom. Accordingly, genetic ascertainment facilitates diagnosis and treatment of familial cases. Recognized causes include TSH β subun...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Clin Endocrinol Metab
मुख्य लेखकों: Koulouri, O., Nicholas, A. K., Schoenmakers, E., Mokrosinski, J., Lane, F., Cole, T., Kirk, J., Farooqi, I. S., Chatterjee, V. K., Gurnell, M., Schoenmakers, N.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Endocrine Society 2016
विषय:
Special Features
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC4803180/
https://ncbi.nlm.nih.gov/pubmed/26735259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-3916
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन