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Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl

Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns. This disease is caused by heterozygous pathogenic vari...

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Detalles Bibliográficos
Autores principales: Hou, Ling, Du, Yue, Wu, Yubin, Zeng, Yue, Zhao, Chengguang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236592/
https://www.ncbi.nlm.nih.gov/pubmed/34195159
http://dx.doi.org/10.3389/fped.2021.638630