Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation

Spondyloocular syndrome (SOS, OMIM # 605822) is a rare genetic disorder characterized by osseous and ocular manifestations, including generalized osteoporosis, multiple long bones fractures, platyspondyly, dense cataracts and retinal detachment, and dysmorphic facial features, with or without short...

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Detalles Bibliográficos
Autores principales: Chouery, Eliane, Karam, Rim, Mrad, Yves Najm, Mehawej, Cybel, Dib El Jalbout, Nahia, Bleik, Jamal, Mahfoud, Daniel, Megarbane, Andre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957273/
https://www.ncbi.nlm.nih.gov/pubmed/36833424
http://dx.doi.org/10.3390/genes14020497

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957273/
https://www.ncbi.nlm.nih.gov/pubmed/36833424
http://dx.doi.org/10.3390/genes14020497

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