Ostergaard, P; Simpson, MA; Mendola, A; Vasudevan, P; Connell, FC; van Impel, A; Moore, AT; Loeys, BL; Ghalamkarpour, A; Onoufriadis, A; et al. Ostergaard, P; Simpson, MA; Mendola, A; Vasudevan, P; Connell, FC; van Impel, A; Moore, AT; Loeys, BL; Ghalamkarpour, A; Onoufriadis, A; Martinez-Corral, I; Devery, S; Leroy, JG; van Laer, L; Singer, A; Bialer, MG; McEntagart, M; Quarrell, O; Brice, G; Trembath, RC; Schulte-Merker, S; Makinen, T; Vikkula, M; Mortimer, PS; Mansour, S; Jeffery, S (2012) Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. AMERICAN JOURNAL OF HUMAN GENETICS, 90 (2). 356 - 362 (7). ISSN 0002-9297 https://doi.org/10.1016/j.ajhg.2011.12.018
| Item Type: | Article | ||||
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| Additional Information: | PubMed ID: 22284827 | ||||
| Keywords: | Abnormalities, Multiple, Cholestasis, Cohort Studies, Congenital Abnormalities, Exome, Facies, Female, Heterozygote, Humans, Kinesin, Lymphedema, Male, Microcephaly, Mutation, Pedigree, Phenotype, Retinal Dysplasia, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, OF-THE-LITERATURE, MITOTIC SPINDLE, MOTOR PROTEIN, KINESIN EG5, DYSPLASIA | ||||
| SGUL Research Institute / Research Centre: | ?? div_bio_sci ?? ?? med_gen_rc ?? ?? div_cli_sci ?? ?? car_sci_rc ?? |
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| Journal or Publication Title: | AMERICAN JOURNAL OF HUMAN GENETICS | ||||
| ISSN: | 0002-9297 | ||||
| Dates: |
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| Web of Science ID: | WOS:000300742200018 | ||||
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| URI: | https://openaccess.sgul.ac.uk/id/eprint/100249 | ||||
| Publisher's version: | https://doi.org/10.1016/j.ajhg.2011.12.018 |
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- Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. (deposited 31 Aug 2012 08:31) [Currently Displayed]
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