# A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/a-novel-autosomal-recessive-gja1-missense-mutation-linked-to-craniometaphyseal/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Ying Hu,I‐Ping Chen,Salomé de Almeida,Valdenize Tiziani,Cassio Menezes Raposo do Amaral,Kalpana Gowrishankar,Maria Rita Passos‐Bueno,Ernst Reichenberger |
| Citations | 76 |
| DOI | 10.1371/journal.pone.0073576 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | gold |
| OA URL | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0073576&type=printable |
| OpenAlex ID | https://openalex.org/W2168245937 |
| PMID | 23951358 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Ying Hu](https://scholariq.org/researchers/ying-hu-2/)

## Paper journal

- [PLoS ONE](https://scholariq.org/journals/plos-one/)

## Paper primary topic

- [Connexins and lens biology](https://scholariq.org/topics/connexins-and-lens-biology/)

## Paper topics

- [Connexins and lens biology](https://scholariq.org/topics/connexins-and-lens-biology/)
- [Heat shock proteins research](https://scholariq.org/topics/heat-shock-proteins-research/)
- [Heme Oxygenase-1 and Carbon Monoxide](https://scholariq.org/topics/heme-oxygenase-1-and-carbon-monoxide/)

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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.