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Genitopatellar syndrome: the first reported case in Japan
Genitopatellar syndrome (GPS) is mainly characterized by an absence of patellae, congenital flexion contractures of the lower limbs, psychomotor retardation, and anomalies of the external genitalia and kidneys. We report an 18-year-old female with a novel heterozygous truncating mutation in exon 17...
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| Publicat a: | Hum Genome Var |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group UK
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5972145/ https://ncbi.nlm.nih.gov/pubmed/29899993 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0010-1 |
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