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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Hermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder

Badriah G Alasmari1, Shady Wafa1, Ali M Tahir1

  • 1Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.

Cureus
|August 22, 2024
PubMed

Keywords:
epistaxishermansky-pudlak syndrome type 2neutrophil countoculocutaneous albinism (oca)skin lesions

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