# Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mutations-in-plod2-cause-autosomal-recessive-connective-tissue-disorders-within/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Maria Trinidad Puig-Hervás,Samia A. Temtamy,Mona Aglan,Maria Valencia,Víctor Martínez‐Glez,María Juliana Ballesta‐Martínez,Vanesa López‐González,Adel M. Ashour,Khalda Amr,Verónica Pulido,Encarna Guillén‐Navarro,Pablo Lapunzina,José A. Caparrós‐Martín,Víctor L. Ruiz‐Pérez |
| Citations | 99 |
| DOI | 10.1002/humu.22133 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2052589876 |
| PMID | 22689593 |
| Type | article |
| Year | 2012 |

## 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 health and treatments](https://scholariq.org/topics/bone-health-and-treatments/)
- [Peptidase Inhibition and Analysis](https://scholariq.org/topics/peptidase-inhibition-and-analysis/)

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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.