# Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/identification-of-a-frameshift-mutation-in-osterix-in-a-patient-with-recessive/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Pablo Lapunzina,Mona Aglan,Samia A. Temtamy,José A. Caparrós‐Martín,Maria Valencia,Rocío Letón,Víctor Martínez‐Glez,Rasha M. Elhossini,Khalda Amr,Nuria Vilaboa,Víctor L. Ruiz‐Pérez |
| Citations | 289 |
| DOI | 10.1016/j.ajhg.2010.05.016 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929710002648/pdf |
| OpenAlex ID | https://openalex.org/W1963492957 |
| PMID | 20579626 |
| Type | article |
| Year | 2010 |

## Paper authors

- [Khalda Amr](https://scholariq.org/researchers/khalda-amr/)

## Paper primary topic

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)

## Paper topics

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Bone and Dental Protein Studies](https://scholariq.org/topics/bone-and-dental-protein-studies/)
- [Bone Metabolism and Diseases](https://scholariq.org/topics/bone-metabolism-and-diseases/)

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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.