Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causative compound heterozygous variants were...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5602009/
https://ncbi.nlm.nih.gov/pubmed/28905882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.107
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