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ODP380 Case of Skeletal Dysplasia in Post-Menarchal Pediatric Patient due to Novel Mutation of CSGALNACT1
We report the case of a 14 year old Yemenite female diagnosed with autosomal recessive skeletal dysplasia secondary to a novel mutation of CSGALNACT1. She was initially referred to pediatric endocrine for poor linear growth at the age of 11 year 7 months. At that time, her height was well below the...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625648/ http://dx.doi.org/10.1210/jendso/bvac150.1245 |