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CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations
Hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM) are both caused by mutations in the CDH3 gene. In this report, we describe a family with EEM syndrome caused by a novel CDH3 gene mutation and review the mutation spectrum and limb...
Tallennettuna:
| Päätekijät: | , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
S. Karger AG
2011
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3214945/ https://ncbi.nlm.nih.gov/pubmed/22140374 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000327156 |
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