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Case Report: Two Newly Diagnosed Patients With KBG Syndrome—Two Different Molecular Changes
Mutations or deletions of ANKRD11 gene are responsible for the symptoms of KBG syndrome. The KBG syndrome is a rare genetic disorder which is inherited in an autosomal dominant manner. Affected patients usually have characteristic facial features, macrodontia of the upper central incisors, hand abno...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8485045/ https://www.ncbi.nlm.nih.gov/pubmed/34604130 http://dx.doi.org/10.3389/fped.2021.649043 |