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A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene
BACKGROUND: Meckel–Gruber syndrome (MKS) is a well‐known rare disease that can be detected on prenatal ultrasound. Meckel–Gruber syndrome has very heterogeneous etiology; at least, 17 genes have been described in association with MKS. The characteristic findings in fetuses affected by MKS are enceph...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6503012/ https://ncbi.nlm.nih.gov/pubmed/30851085 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.614 |
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