Identification of mutations in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia

Identification of mutations in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia

<p>Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelids, cardiac abnormalities, hearing loss, and unilateral cleft lip. Recently, compound heterozygous mutations were identified in TXNL...

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Bibliographic Details
Main Authors: Goos, J, Swagemakers, S, Twigg, S, van Dooren, M, Hoogeboom, A, Beetz, C, Günther, S, Magielsen, F, Ockeloen, C, Ramos-Arroyo, M, Pfundt, R, Yntema, H, van der Spek, P, Stanier, P, Wieczorek, D, Wilkie, A, van den Ouweland, A, Mathijssen, I, Hurst, J
Format: Journal article
Published: Nature Publishing Group 2017

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