The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males

SRF Twigg; K Matsumoto; AMJ Kidd; A Goriely; IB Taylor; RB Fisher; Jeannette Hoogeboom; Irene Mathijssen; MT Lourenco; JEV Morton; E Sweeney; LC Wilson; HG Brunner; JB Mulliken; SA Wall; AOM Wilkie

doi:10.1086/504440

The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males

SRF Twigg
, K Matsumoto
, AMJ Kidd
, A Goriely
, IB Taylor
, RB Fisher
, Jeannette Hoogeboom
, Irene Mathijssen
, MT Lourenco
, JEV Morton
, E Sweeney
, LC Wilson
, HG Brunner
, JB Mulliken
, SA Wall
, AOM Wilkie

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

90 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	999-1010
Number of pages	12
Journal	American Journal of Human Genetics
Volume	78
Issue number	6
DOIs	https://doi.org/10.1086/504440
Publication status	Published - 2006

Research programs

EMC MUSC-01-50-01

Access to Document

10.1086/504440

http://hdl.handle.net/1765/57979

Cite this

Twigg, SRF., Matsumoto, K., Kidd, AMJ., Goriely, A., Taylor, IB., Fisher, RB., Hoogeboom, J., Mathijssen, I., Lourenco, MT., Morton, JEV., Sweeney, E., Wilson, LC., Brunner, HG., Mulliken, JB., Wall, SA., & Wilkie, AOM. (2006). The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males. American Journal of Human Genetics, 78(6), 999-1010. https://doi.org/10.1086/504440

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Twigg, SRF, Matsumoto, K, Kidd, AMJ, Goriely, A, Taylor, IB, Fisher, RB, Hoogeboom, J, Mathijssen, I, Lourenco, MT, Morton, JEV, Sweeney, E, Wilson, LC, Brunner, HG, Mulliken, JB, Wall, SA & Wilkie, AOM 2006, 'The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males', American Journal of Human Genetics, vol. 78, no. 6, pp. 999-1010. https://doi.org/10.1086/504440

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T1 - The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males

AU - Twigg, SRF

AU - Matsumoto, K

AU - Kidd, AMJ

AU - Goriely, A

AU - Taylor, IB

AU - Fisher, RB

AU - Hoogeboom, Jeannette

AU - Mathijssen, Irene

AU - Lourenco, MT

AU - Morton, JEV

AU - Sweeney, E

AU - Wilson, LC

AU - Brunner, HG

AU - Mulliken, JB

AU - Wall, SA

AU - Wilkie, AOM

PY - 2006

Y1 - 2006

U2 - 10.1086/504440

DO - 10.1086/504440

M3 - Article

C2 - 16685650

SN - 0002-9297

VL - 78

SP - 999

EP - 1010

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -