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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Publicado en:Eur J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2017
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Article
Acceso en liña: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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