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The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes
BACKGROUND: Geleophysic dysplasia is a rare multisystem disorder that principally affects the bones, joints, heart, and skin. This condition is inherited either in an autosomal dominant pattern due to FBN1 mutations or in an autosomal recessive pattern due to ADAMTSL2 mutations. Two patients with un...
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| Publicado no: | Case Rep Endocrinol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6051107/ https://ncbi.nlm.nih.gov/pubmed/30057829 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/8212417 |
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