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Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
Type 2 congenital microcephaly (MCPH2) is a brain development disorder characterized by primary microcephaly with or without brain malformations. MCPH2 is caused by mutations in the WDR62 gene. We present three new patients with MCPH2 and compound heterozygous mutations in the WDR62 gene. In all the...
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| Udgivet i: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
MDPI
2021
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8072659/ https://ncbi.nlm.nih.gov/pubmed/33921653 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12040594 |
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