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Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94
Background: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features...
में बचाया:
| में प्रकाशित: | Genes (Basel) |
|---|---|
| मुख्य लेखकों: | , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
MDPI
2020
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7565137/ https://ncbi.nlm.nih.gov/pubmed/32825426 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11090967 |
| टैग : |
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