Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Page 1
Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.
Khorram E, Tabatabaiefar MA, Yaghini O, Khorrami M, Yazdani V, Fakhr F, Amini M, Kheirollahi M. Khorram E, et al. Mol Genet Genomics. 2023 Mar;298(2):485-493. doi: 10.1007/s00438-022-01971-6. Epub 2023 Jan 18. Mol Genet Genomics. 2023. PMID: 36651988 Review.
Griscelli syndrome type 1 (GS1) is a rare inherited autosomal recessive disease caused by a deleterious variant in the MYO5A gene and characterized by general hypopigmentation, neurological symptoms, motor disability, hypotonia, and vision abnormality.
Griscelli syndrome type 1 (GS1) is a rare inherited autosomal recessive disease caused by a deleterious variant
Diagnostic and therapeutic caveats in Griscelli syndrome.
Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM. Castaño-Jaramillo LM, et al. Scand J Immunol. 2021 Jun;93(6):e13034. doi: 10.1111/sji.13034. Epub 2021 Mar 20. Scand J Immunol. 2021. PMID: 33660295 Free article. Review.