Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia-Reference-Cited by-同舟云学术

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

Published:2017-07-26 Issue:10 Volume:25 Page:1126-1133
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2017107.pdf

Reference16 articles.

1. Burn J, McKeown C, Wagget J, Bray R, Goodship J : New dysmorphic syndrome with choanal atresia in siblings. Clin Dysmorphol 1992; 1: 137–144.

2. Wieczorek D, Teber OA, Lohmann D, Gillessen-Kaesbach G : Two brothers with Burn-McKeown syndrome. Clin Dysmorphol 2003; 12: 171–174.

3. Wieczorek D, Newman WG, Wieland T et al: Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am J Hum Genet 2014; 95: 698–707.

4. Liu S, Rauhut R, Vornlocher HP, Luhrmann R : The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. RNA 2006; 12: 1418–1430.

5. Lehalle D, Wieczorek D, Zechi-Ceide RM et al: A review of craniofacial disorders caused by spliceosomal defects. Clin Genet 2015; 88: 405–415.

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