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A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome
Helsmoortel–van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. We report the first case of a 3 years and 10 months old boy exhibiting typical features...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6138634/ https://ncbi.nlm.nih.gov/pubmed/29899371 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0165-8 |
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