Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).

The Journal of clinical investigation - 1 Aug 2003

Ménasché Gaël, Ho Chen Hsuan, Sanal Ozden, Feldmann Jérôme, Tezcan Ilhan, Ersoy Fügen, Houdusse Anne, Fischer Alain, de Saint Basile Geneviève

Abstract excerpt

Griscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the occurrence of either a primary neurological impairment or a severe immune disorder. Two different genetic forms, GS1 and GS2, respectively, account for the mutually exclusive neurological and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Hair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypopigmentation

Share to Melanosomes

Share to Myosin Heavy Chains

Share to Myosin Type V

Share to rab GTP-Binding Proteins

Share to rab27 GTP-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 12897212
DOI: 10.1172/JCI18264
PMCID: PMC166299

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).PMID 12897212Read ↗

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Semantic proximity Read ↗

Griscelli syndrome: a model system to study vesicular trafficking.Semantic proximity Read ↗

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.Semantic proximity Read ↗

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.Semantic proximity Read ↗

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.Semantic proximity Read ↗

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.Semantic proximity Read ↗

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.Semantic proximity Read ↗

Rab27aSemantic proximity Read ↗

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector EngagementSemantic proximity Read ↗

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismSemantic proximity Read ↗

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.Semantic proximity Read ↗

The biology of hyperpigmentation syndromesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.