Twigg, Stephen R. F. 
; Hufnagel, Robert B. ; Miller, Kerry A. ; Zhou, Yan ; McGowan, Simon J. ; Taylor, John ; Craft, Jude ; Taylor, Jenny C. ; Santoro, Stephanie L. ; Huang, Taosheng ; Hopkin, Robert J. ; Brady, Angela F. ; Clayton-Smith, Jill ; Clericuzio, Carol L. ; Grange, Dorothy K. ; Groesser, Leopold ; Hafner, Christian ; Horn, Denise ; Temple, I. Karen ; Dobyns, William B. ; Curry, Cynthia J. ; Jones, Marilyn C. ; Wilkie, Andrew O. M.
; Hufnagel, Robert B. ; Miller, Kerry A. ; Zhou, Yan ; McGowan, Simon J. ; Taylor, John ; Craft, Jude ; Taylor, Jenny C. ; Santoro, Stephanie L. ; Huang, Taosheng ; Hopkin, Robert J. ; Brady, Angela F. ; Clayton-Smith, Jill ; Clericuzio, Carol L. ; Grange, Dorothy K. ; Groesser, Leopold ; Hafner, Christian ; Horn, Denise ; Temple, I. Karen ; Dobyns, William B. ; Curry, Cynthia J. ; Jones, Marilyn C. ; Wilkie, Andrew O. M. A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Article
Twigg, Stephen R. F., Hufnagel, Robert B., Miller, Kerry A., Zhou, Yan, McGowan, Simon J. , Taylor, John, Craft, Jude, Taylor, Jenny C., Santoro, Stephanie L., Huang, Taosheng, Hopkin, Robert J., Brady, Angela F., Clayton-Smith, Jill, Clericuzio, Carol L., Grange, Dorothy K., Groesser, Leopold, Hafner, Christian, Horn, Denise, Temple, I. Karen, Dobyns, William B. , Curry, Cynthia J., Jones, Marilyn C. and Wilkie, Andrew O. M.
(2016)
A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
The American Journal of Human Genetics 98 (6), pp. 1256-1265.
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| Item type | Article | ||||
| Journal or Publication Title | The American Journal of Human Genetics | ||||
| Publisher | CELL PRESS | ||||
| Place of Publication | CAMBRIDGE | ||||
| Volume | 98 | ||||
| Number of Issue or Book Chapter | 6 | ||||
| Page Range | pp. 1256-1265 | ||||
| Date | 2016 | ||||
| Date of publication | 17 Mar 2020 11:25 | ||||
| Institutions | Medicine > Lehrstuhl für Dermatologie und Venerologie | ||||
| Identification Number |
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| Keywords | BASAL-CELL CARCINOMA; GENOMIC ANALYSIS; NEVUS SYNDROME; HUMAN HOMOLOG; MEDULLOBLASTOMA; SPECTRUM; RECEPTOR; ABNORMALITIES; MALFORMATIONS; OVERGROWTH; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 42120 |
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