Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome Article Swipe
Donatella Milani
,
Giulia Cagnoli
,
Marco Baccarin
,
Enrico Alfei
,
Silvana Guerneri
,
Susanna Esposito
·
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1111/cga.12164
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1111/cga.12164
Deletions on chromosome 6q are rarely reported in the literature, and genotype‐phenotype correlations are poorly understood. We report a child with a deletion of the 6q21‐q22 chromosomal region, providing some intriguing results about the correlation between this region and acro‐cardio‐facial syndrome, congenital heart disease, split hand and foot malformation, and epilepsy.
Related Topics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1111/cga.12164
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cga.12164
- OA Status
- bronze
- Cited By
- 9
- References
- 13
- Related Works
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- OpenAlex ID
- https://openalex.org/W2313657067
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W2313657067Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1111/cga.12164Digital Object Identifier
- Title
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Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndromeWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2016Year of publication
- Publication date
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2016-04-02Full publication date if available
- Authors
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Donatella Milani, Giulia Cagnoli, Marco Baccarin, Enrico Alfei, Silvana Guerneri, Susanna EspositoList of authors in order
- Landing page
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https://doi.org/10.1111/cga.12164Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cga.12164Direct link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cga.12164Direct OA link when available
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Phenotype, Chromosome, Epilepsy, Genetics, Biology, Medicine, Gene, NeuroscienceTop concepts (fields/topics) attached by OpenAlex
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9Total citation count in OpenAlex
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2025: 1, 2024: 1, 2022: 1, 2019: 1, 2017: 4Per-year citation counts (last 5 years)
- References (count)
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13Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.and | 11, 39, 47, 50 |
| abstract_inverted_index.are | 5, 14 |
| abstract_inverted_index.the | 9, 25, 34 |
| abstract_inverted_index.foot | 48 |
| abstract_inverted_index.hand | 46 |
| abstract_inverted_index.some | 30 |
| abstract_inverted_index.this | 37 |
| abstract_inverted_index.with | 21 |
| abstract_inverted_index.about | 33 |
| abstract_inverted_index.child | 20 |
| abstract_inverted_index.heart | 43 |
| abstract_inverted_index.split | 45 |
| abstract_inverted_index.poorly | 15 |
| abstract_inverted_index.rarely | 6 |
| abstract_inverted_index.region | 38 |
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| abstract_inverted_index.region, | 28 |
| abstract_inverted_index.results | 32 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.deletion | 23 |
| abstract_inverted_index.disease, | 44 |
| abstract_inverted_index.reported | 7 |
| abstract_inverted_index.Deletions | 1 |
| abstract_inverted_index.epilepsy. | 51 |
| abstract_inverted_index.providing | 29 |
| abstract_inverted_index.syndrome, | 41 |
| abstract_inverted_index.6q21‐q22 | 26 |
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| abstract_inverted_index.intriguing | 31 |
| abstract_inverted_index.chromosomal | 27 |
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| abstract_inverted_index.genotype‐phenotype | 12 |
| abstract_inverted_index.acro‐cardio‐facial | 40 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5016435019 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 6 |
| corresponding_institution_ids | https://openalex.org/I189158943 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.8199999928474426 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.86985633 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |