# Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/genetic-study-of-eight-egyptian-patients-with-pycnodysostosis-identification-of/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Ghada A. Otaify,Mohamed S. Abdel‐Hamid,Mennat Mehrez,Eman H. A. Aboul-Ezz,Maha S. Zaki,Mona Aglan,Samia A. Temtamy |
| Citations | 18 |
| DOI | 10.1007/s00198-018-4555-0 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2804700661 |
| PMID | 29796728 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Mennat Mehrez](https://scholariq.org/researchers/mennat-mehrez/)

## Paper primary topic

- [Bone Metabolism and Diseases](https://scholariq.org/topics/bone-metabolism-and-diseases/)

## Paper topics

- [Bone Metabolism and Diseases](https://scholariq.org/topics/bone-metabolism-and-diseases/)
- [Dermatological and Skeletal Disorders](https://scholariq.org/topics/dermatological-and-skeletal-disorders/)
- [Osteomyelitis and Bone Disorders Research](https://scholariq.org/topics/osteomyelitis-and-bone-disorders-research/)

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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.