RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

D Jenkins; D Seelow; FS Jehee; CA Perlyn; LG Alonso; DF Bueno; D Donnai; D Josifiova; Irene Mathijssen; JEV Morton; KH Orstavik; E Sweeney; SA Wall; JL Marsh; P Nurnberg; MR Passos-Bueno; AOM Wilkie

doi:10.1086/518047

RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

D Jenkins, D Seelow, FS Jehee, CA Perlyn, LG Alonso, DF Bueno, D Donnai, D Josifiova, Irene Mathijssen, JEV Morton, KH Orstavik, E Sweeney, SA Wall, JL Marsh, P Nurnberg, MR Passos-Bueno, AOM Wilkie

Plastic and Reconstructive Surgery and Hand Surgery

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

203 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1162-1170
Number of pages	9
Journal	American Journal of Human Genetics
Volume	80
Issue number	6
DOIs	https://doi.org/10.1086/518047
Publication status	Published - 2007

Research programs

EMC MUSC-01-50-01

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1086/518047

http://hdl.handle.net/1765/35144

Cite this

Jenkins, D., Seelow, D., Jehee, FS., Perlyn, CA., Alonso, LG., Bueno, DF., Donnai, D., Josifiova, D., Mathijssen, I., Morton, JEV., Orstavik, KH., Sweeney, E., Wall, SA., Marsh, JL., Nurnberg, P., Passos-Bueno, MR., & Wilkie, AOM. (2007). RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. American Journal of Human Genetics, 80(6), 1162-1170. https://doi.org/10.1086/518047

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title = "RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity",

author = "D Jenkins and D Seelow and FS Jehee and CA Perlyn and LG Alonso and DF Bueno and D Donnai and D Josifiova and Irene Mathijssen and JEV Morton and KH Orstavik and E Sweeney and SA Wall and JL Marsh and P Nurnberg and MR Passos-Bueno and AOM Wilkie",

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Jenkins, D, Seelow, D, Jehee, FS, Perlyn, CA, Alonso, LG, Bueno, DF, Donnai, D, Josifiova, D, Mathijssen, I, Morton, JEV, Orstavik, KH, Sweeney, E, Wall, SA, Marsh, JL, Nurnberg, P, Passos-Bueno, MR & Wilkie, AOM 2007, 'RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity', American Journal of Human Genetics, vol. 80, no. 6, pp. 1162-1170. https://doi.org/10.1086/518047

TY - JOUR

T1 - RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

AU - Jenkins, D

AU - Seelow, D

AU - Jehee, FS

AU - Perlyn, CA

AU - Alonso, LG

AU - Bueno, DF

AU - Donnai, D

AU - Josifiova, D

AU - Mathijssen, Irene

AU - Morton, JEV

AU - Orstavik, KH

AU - Sweeney, E

AU - Wall, SA

AU - Marsh, JL

AU - Nurnberg, P

AU - Passos-Bueno, MR

AU - Wilkie, AOM

PY - 2007

Y1 - 2007

U2 - 10.1086/518047

DO - 10.1086/518047

M3 - Article

C2 - 17503333

SN - 0002-9297

VL - 80

SP - 1162

EP - 1170

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -