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

Jacqueline Goos; Sigrid Swagemakers; SRF Twigg; Marieke van Dooren; Jeannette Hoogeboom; C Beetz; S Gunther; Frank Magielsen; C W Ockeloen; MA Ramos-Arroyo; R Pfundt; HG Yntema; PJ Spek; P Stanier; D Wieczorek; AOM Wilkie; AMW van den Ouweland; IMJ Mathijssen; JA Hurst

doi:10.1038/ejhg.2017.107

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

Jacqueline Goos, Sigrid Swagemakers, SRF Twigg, Marieke van Dooren, Jeannette Hoogeboom, C Beetz, S Gunther, Frank Magielsen, C W Ockeloen, MA Ramos-Arroyo, R Pfundt, HG Yntema, PJ Spek, P Stanier, D Wieczorek, AOM Wilkie, AMW van den Ouweland, IMJ Mathijssen, JA Hurst

Research output: Contribution to journal › Article › Academic › peer-review

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Original language	Undefined/Unknown
Pages (from-to)	1126-1133
Number of pages	8
Journal	European Journal of Human Genetics
Volume	25
Issue number	10
DOIs	https://doi.org/10.1038/ejhg.2017.107
Publication status	Published - 2017

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Cite this

Goos, J., Swagemakers, S., Twigg, SRF., van Dooren, M., Hoogeboom, J., Beetz, C., Gunther, S., Magielsen, F., Ockeloen, C. W., Ramos-Arroyo, MA., Pfundt, R., Yntema, HG., Spek, PJ., Stanier, P., Wieczorek, D., Wilkie, AOM., van den Ouweland, AMW., Mathijssen, IMJ., & Hurst, JA. (2017). Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. European Journal of Human Genetics, 25(10), 1126-1133. https://doi.org/10.1038/ejhg.2017.107

Goos, Jacqueline ; Swagemakers, Sigrid ; Twigg, SRF ; van Dooren, Marieke ; Hoogeboom, Jeannette ; Beetz, C ; Gunther, S ; Magielsen, Frank ; Ockeloen, C W ; Ramos-Arroyo, MA ; Pfundt, R ; Yntema, HG ; Spek, PJ ; Stanier, P ; Wieczorek, D ; Wilkie, AOM ; van den Ouweland, AMW ; Mathijssen, IMJ ; Hurst, JA. / Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. In: European Journal of Human Genetics. 2017 ; Vol. 25, No. 10. pp. 1126-1133.

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title = "Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia",

author = "Jacqueline Goos and Sigrid Swagemakers and SRF Twigg and {van Dooren}, Marieke and Jeannette Hoogeboom and C Beetz and S Gunther and Frank Magielsen and Ockeloen, {C W} and MA Ramos-Arroyo and R Pfundt and HG Yntema and PJ Spek and P Stanier and D Wieczorek and AOM Wilkie and {van den Ouweland}, AMW and IMJ Mathijssen and JA Hurst",

year = "2017",

doi = "10.1038/ejhg.2017.107",

language = "Undefined/Unknown",

volume = "25",

pages = "1126--1133",

journal = "European Journal of Human Genetics",

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Goos, J , Swagemakers, S, Twigg, SRF, van Dooren, M, Hoogeboom, J, Beetz, C, Gunther, S, Magielsen, F, Ockeloen, CW, Ramos-Arroyo, MA, Pfundt, R, Yntema, HG, Spek, PJ, Stanier, P, Wieczorek, D, Wilkie, AOM, van den Ouweland, AMW, Mathijssen, IMJ & Hurst, JA 2017, 'Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia', European Journal of Human Genetics, vol. 25, no. 10, pp. 1126-1133. https://doi.org/10.1038/ejhg.2017.107

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. / Goos, Jacqueline ; Swagemakers, Sigrid; Twigg, SRF; van Dooren, Marieke; Hoogeboom, Jeannette; Beetz, C; Gunther, S; Magielsen, Frank; Ockeloen, C W; Ramos-Arroyo, MA; Pfundt, R; Yntema, HG; Spek, PJ; Stanier, P; Wieczorek, D; Wilkie, AOM; van den Ouweland, AMW; Mathijssen, IMJ; Hurst, JA.

In: European Journal of Human Genetics, Vol. 25, No. 10, 2017, p. 1126-1133.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

AU - Goos, Jacqueline

AU - Swagemakers, Sigrid

AU - Twigg, SRF

AU - van Dooren, Marieke

AU - Hoogeboom, Jeannette

AU - Beetz, C

AU - Gunther, S

AU - Magielsen, Frank

AU - Ockeloen, C W

AU - Ramos-Arroyo, MA

AU - Pfundt, R

AU - Yntema, HG

AU - Spek, PJ

AU - Stanier, P

AU - Wieczorek, D

AU - Wilkie, AOM

AU - van den Ouweland, AMW

AU - Mathijssen, IMJ

AU - Hurst, JA

PY - 2017

Y1 - 2017

U2 - 10.1038/ejhg.2017.107

DO - 10.1038/ejhg.2017.107

M3 - Article

VL - 25

SP - 1126

EP - 1133

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 10

ER -