Genetic analysis in Egyptian patients with Chediak-Higashi syndrome reveals new LYST mutations

Clin Exp Dermatol. 2019 Oct;44(7):814-817. doi: 10.1111/ced.13937. Epub 2019 Feb 27.

Authors

N S Gomaa^{1

2}, J Y W Lee¹, A El Sharkawy³, Y F El Chazli³, H M A Hassab³, N N Doghaim², J A McGrath¹, A Onoufriadis¹

Affiliations

¹ St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
² Dermatology Department, Faculty of Medicine, Tanta University, Tanta, Egypt.
³ Pediatric Hematology-Oncology Unit, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

PMID: 30815890
DOI: 10.1111/ced.13937

No abstract available

Publication types

Case Reports

MeSH terms

Chediak-Higashi Syndrome / diagnosis
Chediak-Higashi Syndrome / genetics*
Chediak-Higashi Syndrome / pathology*
Chediak-Higashi Syndrome / therapy
Consanguinity
Egypt / epidemiology
Hematopoietic Stem Cell Transplantation / methods
Humans
Mutation, Missense
Pedigree
Photosensitivity Disorders / genetics
Vesicular Transport Proteins / genetics*

Substances

LYST protein, human
Vesicular Transport Proteins

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