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

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 mutations in...

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Detalles Bibliográficos
Autores principales: Wang, Tao, Yang, Yuyan, Dong, Qi, Zhu, Huijuan, Liu, Yuehua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336748/
https://www.ncbi.nlm.nih.gov/pubmed/32406602
http://dx.doi.org/10.1002/mgg3.1282

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336748/
https://www.ncbi.nlm.nih.gov/pubmed/32406602
http://dx.doi.org/10.1002/mgg3.1282

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