A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome

Jaap Potuijt; Martijn Baas; R Sukenik-Halevy; Hannie Douben; Picard Nguyen; DJ Venter; R Gallagher; Sigrid Swagemakers; Steven Hovius; Christianne van Nieuwenhoven; RJH Galjaard; Peter van der Spek; N Ahituv; Annelies de Klein

doi:10.1038/gim.2018.18

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome

Jaap Potuijt, Martijn Baas, R Sukenik-Halevy, Hannie Douben, Picard Nguyen, DJ Venter, R Gallagher, Sigrid Swagemakers, Steven Hovius, Christianne van Nieuwenhoven, RJH Galjaard, Peter van der Spek, N Ahituv, Annelies de Klein

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

21 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1405-1413
Number of pages	9
Journal	Genetics in Medicine
Volume	20
Issue number	11
DOIs	https://doi.org/10.1038/gim.2018.18
Publication status	Published - 2018

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EMC NIHES-01-50-01-A

Access to Document

10.1038/gim.2018.18

http://hdl.handle.net/1765/113013

Cite this

Potuijt, J., Baas, M., Sukenik-Halevy, R., Douben, H., Nguyen, P., Venter, DJ., Gallagher, R., Swagemakers, S., Hovius, S., van Nieuwenhoven, C., Galjaard, RJH., van der Spek, P., Ahituv, N., & de Klein, A. (2018). A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome. Genetics in Medicine, 20(11), 1405-1413. https://doi.org/10.1038/gim.2018.18

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title = "A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome",

author = "Jaap Potuijt and Martijn Baas and R Sukenik-Halevy and Hannie Douben and Picard Nguyen and DJ Venter and R Gallagher and Sigrid Swagemakers and Steven Hovius and {van Nieuwenhoven}, Christianne and RJH Galjaard and {van der Spek}, Peter and N Ahituv and {de Klein}, Annelies",

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doi = "10.1038/gim.2018.18",

language = "Undefined/Unknown",

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pages = "1405--1413",

journal = "Genetics in Medicine",

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Potuijt, J, Baas, M, Sukenik-Halevy, R, Douben, H, Nguyen, P, Venter, DJ, Gallagher, R, Swagemakers, S , Hovius, S , van Nieuwenhoven, C, Galjaard, RJH, van der Spek, P, Ahituv, N & de Klein, A 2018, 'A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome', Genetics in Medicine, vol. 20, no. 11, pp. 1405-1413. https://doi.org/10.1038/gim.2018.18

TY - JOUR

T1 - A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome

AU - Potuijt, Jaap

AU - Baas, Martijn

AU - Sukenik-Halevy, R

AU - Douben, Hannie

AU - Nguyen, Picard

AU - Venter, DJ

AU - Gallagher, R

AU - Swagemakers, Sigrid

AU - Hovius, Steven

AU - van Nieuwenhoven, Christianne

AU - Galjaard, RJH

AU - van der Spek, Peter

AU - Ahituv, N

AU - de Klein, Annelies

PY - 2018

Y1 - 2018

U2 - 10.1038/gim.2018.18

DO - 10.1038/gim.2018.18

M3 - Article

C2 - 29543231

SN - 1098-3600

VL - 20

SP - 1405

EP - 1413

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 11

ER -