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Identification of novel compound heterozygous mutations of the DYNC2H1 gene in a fetus with short-rib thoracic dysplasia 3 with or without polydactyly
A prenatal sonograph revealed a 26-week-old fetus with short limbs and a narrow chest in a 23-year-old woman with a history of fetal skeletal dysplasia. A single nucleotide polymorphism-based chromosomal microarray (CMA) indicated a normal karyotype, and no chromosomal segments with abnormal copy nu...
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| Publicado no: | Intractable Rare Dis Res |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7263985/ https://ncbi.nlm.nih.gov/pubmed/32494556 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.01031 |
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