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SAT-290 Expanded Phenotype Associated with RNF135 Intragenic Deletion in a Girl with Peripheral Precocious Puberty
Introduction: RNF135 gene is located within the 17q11.2 region and is often deleted in the NF1 contiguous microdeletion syndrome. Six individuals with suspected pathogenic mutations of RNF135 have been described with similar phenotypes including facial dysmorphism (downslanted palpebral fissures, el...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552465/ http://dx.doi.org/10.1210/js.2019-SAT-290 |