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Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism
Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more s...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Thieme Revinter Publicações Ltda
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316906/ https://www.ncbi.nlm.nih.gov/pubmed/30231296 http://dx.doi.org/10.1055/s-0038-1670684 |