# Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/refining-the-clinical-spectrum-of-the-17p13-3-microduplication-syndrome-case/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jorge Diogo Da Silva,Diana Gonzaga,Ana Barreta,Hildeberto Correia,Ana María Fortuna,Ana Rita Soares,Natáliya Tkachenko |
| Citations | 3 |
| DOI | 10.3390/biomedicines10123078 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | gold |
| OA URL | https://www.mdpi.com/2227-9059/10/12/3078/pdf?version=1669887833 |
| OpenAlex ID | https://openalex.org/W4311011551 |
| PMID | 36551834 |
| Type | article |
| Year | 2022 |

## Paper authors

- [Diana Gonzaga](https://scholariq.org/researchers/diana-gonzaga/)

## Paper journal

- [Biomedicines](https://scholariq.org/journals/biomedicines/)

## Paper primary topic

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)

## Paper topics

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Glycosylation and Glycoproteins Research](https://scholariq.org/topics/glycosylation-and-glycoproteins-research/)
- [Protein Tyrosine Phosphatases](https://scholariq.org/topics/protein-tyrosine-phosphatases/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.