Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Danny Halim; Erwin Brosens; F Muller; MF Wangler; AL Beaudet; JR Lupski; ZHC Akdemir; Michail Doukas; Hans Stoop; Bianca de Graaf; Rutger Brouwer; Wilfred van Ijcken; JF Oury; J Rosenblatt; Alan Burns; Dick Tibboel; Robert Hofstra; Maria Alves

doi:10.1016/j.ajhg.2017.05.011

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Danny Halim, Erwin Brosens, F Muller, MF Wangler, AL Beaudet, JR Lupski, ZHC Akdemir, Michail Doukas, Hans Stoop, Bianca de Graaf, Rutger Brouwer, Wilfred van Ijcken, JF Oury, J Rosenblatt, Alan Burns, Dick Tibboel, Robert Hofstra, Maria Alves

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

30 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	123-129
Number of pages	7
Journal	American Journal of Human Genetics
Volume	101
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2017.05.011
Publication status	Published - 2017

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10.1016/j.ajhg.2017.05.011

http://hdl.handle.net/1765/100380

Cite this

Halim, D., Brosens, E., Muller, F., Wangler, MF., Beaudet, AL., Lupski, JR., Akdemir, ZHC., Doukas, M., Stoop, H., de Graaf, B., Brouwer, R., van Ijcken, W., Oury, JF., Rosenblatt, J., Burns, A., Tibboel, D., Hofstra, R., & Alves, M. (2017). Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. American Journal of Human Genetics, 101(1), 123-129. https://doi.org/10.1016/j.ajhg.2017.05.011

Halim, Danny ; Brosens, Erwin ; Muller, F ; Wangler, MF ; Beaudet, AL ; Lupski, JR ; Akdemir, ZHC ; Doukas, Michail ; Stoop, Hans ; de Graaf, Bianca ; Brouwer, Rutger ; van Ijcken, Wilfred ; Oury, JF ; Rosenblatt, J ; Burns, Alan ; Tibboel, Dick ; Hofstra, Robert ; Alves, Maria. / Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. In: American Journal of Human Genetics. 2017 ; Vol. 101, No. 1. pp. 123-129.

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author = "Danny Halim and Erwin Brosens and F Muller and MF Wangler and AL Beaudet and JR Lupski and ZHC Akdemir and Michail Doukas and Hans Stoop and {de Graaf}, Bianca and Rutger Brouwer and {van Ijcken}, Wilfred and JF Oury and J Rosenblatt and Alan Burns and Dick Tibboel and Robert Hofstra and Maria Alves",

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Halim, D, Brosens, E, Muller, F, Wangler, MF, Beaudet, AL, Lupski, JR, Akdemir, ZHC, Doukas, M , Stoop, H , de Graaf, B , Brouwer, R , van Ijcken, W, Oury, JF, Rosenblatt, J, Burns, A, Tibboel, D, Hofstra, R & Alves, M 2017, 'Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome', American Journal of Human Genetics, vol. 101, no. 1, pp. 123-129. https://doi.org/10.1016/j.ajhg.2017.05.011

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. / Halim, Danny; Brosens, Erwin; Muller, F; Wangler, MF; Beaudet, AL; Lupski, JR; Akdemir, ZHC; Doukas, Michail ; Stoop, Hans ; de Graaf, Bianca ; Brouwer, Rutger ; van Ijcken, Wilfred; Oury, JF; Rosenblatt, J; Burns, Alan; Tibboel, Dick; Hofstra, Robert; Alves, Maria.

In: American Journal of Human Genetics, Vol. 101, No. 1, 2017, p. 123-129.

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

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AU - Brosens, Erwin

AU - Muller, F

AU - Wangler, MF

AU - Beaudet, AL

AU - Lupski, JR

AU - Akdemir, ZHC

AU - Doukas, Michail

AU - Stoop, Hans

AU - de Graaf, Bianca

AU - Brouwer, Rutger

AU - van Ijcken, Wilfred

AU - Oury, JF

AU - Rosenblatt, J

AU - Burns, Alan

AU - Tibboel, Dick

AU - Hofstra, Robert

AU - Alves, Maria

PY - 2017

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DO - 10.1016/j.ajhg.2017.05.011

M3 - Article

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SP - 123

EP - 129

JO - American Journal of Human Genetics

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