Acromicric dysplasia with stiff skin syndrome‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review
Abstract Background Acromicric dysplasia is a rare heritable short‐stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time of birth. Heterozygous point mutat...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2020-07-01
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| Col·lecció: | Molecular Genetics & Genomic Medicine |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/mgg3.1282 |
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