Homozygous mutation in ELMO2 may cause Ramon syndrome

C. Mehawej; A. Hoischen; R. A. Farah; I. Marey; M. David; S. Stora; K. Lachlan; H. G. Brunner; A. Megarbane

doi:10.1111/cge.13166

Homozygous mutation in ELMO2 may cause Ramon syndrome

C. Mehawej, A. Hoischen, R. A. Farah, I. Marey, M. David, S. Stora, K. Lachlan, H. G. Brunner, A. Megarbane

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

Original language	English
Pages (from-to)	703-706
Number of pages	4
Journal	Clinical Genetics
Volume	93
Issue number	3
DOIs	https://doi.org/10.1111/cge.13166
Publication status	Published - 1 Mar 2018

Keywords

dysmorphology
gene
Ramon syndrome
whole exome sequencing
INTRAOSSEOUS VASCULAR MALFORMATION
2 SIBS
RAC1
INTERACTS

Access to Document

10.1111/cge.13166

Cite this

Mehawej, C., Hoischen, A., Farah, R. A., Marey, I., David, M., Stora, S., Lachlan, K., Brunner, H. G., & Megarbane, A. (2018). Homozygous mutation in ELMO2 may cause Ramon syndrome. Clinical Genetics, 93(3), 703-706. https://doi.org/10.1111/cge.13166

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author = "C. Mehawej and A. Hoischen and Farah, {R. A.} and I. Marey and M. David and S. Stora and K. Lachlan and Brunner, {H. G.} and A. Megarbane",

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AU - Hoischen, A.

AU - Farah, R. A.

AU - Marey, I.

AU - David, M.

AU - Stora, S.

AU - Lachlan, K.

AU - Brunner, H. G.

AU - Megarbane, A.

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KW - whole exome sequencing

KW - INTRAOSSEOUS VASCULAR MALFORMATION

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KW - RAC1

KW - INTERACTS

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M3 - Article

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JO - Clinical Genetics

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SN - 0009-9163

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