Llwytho...
Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1
Mutations in GLE1 underlie Lethal Congenital Contracture syndrome and Lethal Arthrogryposis with Anterior Horn Cell Disease. Both Lethal Congenital Contracture syndrome and Lethal Arthrogryposis with Anterior Horn Cell Disease are characterized by reduced fetal movements, congenital contractures, an...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Am J Med Genet A |
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| Prif Awduron: | , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
2017
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5659324/ https://ncbi.nlm.nih.gov/pubmed/28884921 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38406 |
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