# A homozygous mutation in <i>RNU4ATAC</i> as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/a-homozygous-mutation-in-i-rnu4atac-i-as-a-cause-of-microcephalic/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Ghada M. H. Abdel‐Salam,Noriko Miyake,Maha M. Eid,Mohamed S. Abdel‐Hamid,Nihal Adel Hassan,Ola M. Eid,Laila K. Effat,Tarek H. El‐Badry,Ghada El‐Kamah,Mohamed El‐Darouti,Naomichi Matsumoto |
| Citations | 33 |
| DOI | 10.1002/ajmg.a.34299 |
| Fields | Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2078417957 |
| PMID | 21990275 |
| Type | article |
| Year | 2011 |

## Paper authors

- [Ghada El‐Kamah](https://scholariq.org/researchers/ghada-el-kamah/)

## Paper journal

- [American Journal of Medical Genetics Part A](https://scholariq.org/journals/american-journal-of-medical-genetics-part-a/)

## Paper primary topic

- [Moyamoya disease diagnosis and treatment](https://scholariq.org/topics/moyamoya-disease-diagnosis-and-treatment/)

## Paper topics

- [Moyamoya disease diagnosis and treatment](https://scholariq.org/topics/moyamoya-disease-diagnosis-and-treatment/)
- [Cerebrovascular and genetic disorders](https://scholariq.org/topics/cerebrovascular-and-genetic-disorders/)
- [Cerebrovascular and Carotid Artery Diseases](https://scholariq.org/topics/cerebrovascular-and-carotid-artery-diseases/)

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