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Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers–Danlos contiguous gene deletion syndrome CAH-X

OBJECTIVE: Approximately 10% of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency carry a mutation that disrupts CYP21A2 and the flanking TNXB gene resulting in CAH-X, a contiguous gene deletion syndrome. TNXB encodes tenascin-X (TNX), an extracellular matrix glycop...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:BMC Res Notes
मुख्य लेखकों: Kolli, Vipula, Kim, Hannah, Rao, Hamsini, Lao, Qizong, Gaynor, Alison, Milner, Joshua D., Merke, Deborah P.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2019
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6820911/
https://ncbi.nlm.nih.gov/pubmed/31666125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-019-4753-7
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