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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Detalles Bibliográficos
Autores principales: Globa, Evgenia, Zelinska, Nataliya, Dauber, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
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

Internet

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

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