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Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report
Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a h...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10333530/ https://www.ncbi.nlm.nih.gov/pubmed/37441550 http://dx.doi.org/10.3389/fgene.2023.1156847 |