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An Infant With Primrose Syndrome: A Case Report
Primrose syndrome is a rare autosomal dominant disorder that is characterized by recognizable facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay. All reported probands show de novo ZBTB20 pathogenic variant. Since its discovery in 1982, Primrose syndrome has remained an...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625483/ https://www.ncbi.nlm.nih.gov/pubmed/37927765 http://dx.doi.org/10.7759/cureus.46546 |