Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome
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| Veröffentlicht in: | Clinical genetics 2014-05, Vol.85 (5), p.492-494 |
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| container_end_page | 494 |
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| container_issue | 5 |
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| container_title | Clinical genetics |
| container_volume | 85 |
| creator | Patel, N. Salih, M.A. Alshammari, M.J. Abdulwahhab, F. Adly, N. Alzahrani, F. Elgamal, E.A. Elkhashab, H.Y. Al-Qattan, M. Alkuraya, F.S. |
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| doi_str_mv | 10.1111/cge.12205 |
| format | Article |
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| fulltext | fulltext |
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| ispartof | Clinical genetics, 2014-05, Vol.85 (5), p.492-494 |
| issn | 0009-9163 1399-0004 |
| language | eng |
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| source | MEDLINE; Access via Wiley Online Library |
| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Adolescent Alleles Arachnodactyly - genetics Arachnodactyly - physiopathology Blepharophimosis - genetics Blepharophimosis - physiopathology Contracture - genetics Contracture - physiopathology Craniofacial Abnormalities Facies Female Genetic Heterogeneity Humans Male Muscular Atrophy - genetics Muscular Atrophy - physiopathology Pedigree Saudi Arabia |
| title | Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome |
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