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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6051107/ https://www.ncbi.nlm.nih.gov/pubmed/30057829 http://dx.doi.org/10.1155/2018/8212417 |