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Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins
BACKGROUND: CHARGE syndrome has an estimated prevalence of 1/10 000. Most cases are sporadic which led to hypotheses of a non‐genetic aetiology. However, there was also evidence for a genetic cause with reports of multiplex families with presumed autosomal dominant, possible autosomal recessive inhe...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Group
2006
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2563251/ https://ncbi.nlm.nih.gov/pubmed/16118347 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.032946 |
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