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 without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.

American journal of medical genetics. Part A - 1 Feb 2003

Aksu Güzide, Kütükçüler Necil, Genel Ferah, Vergin Canan, Omowaire Benjamin

Abstract excerpt

We present an eleven-year-old female patient who was referred to us with silvery hair, hepatosplenomegaly, neutropenia-thrombocytopenia, hypogammaglobulinemia and degenerative white matter disease, with a family history of a female sibling dying at the age of five and two living male cousins, ages 10 and 11. She had been followed up for her cytopenia the last three years and had totally recovered from a...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Hepatomegaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypopigmentation

Share to Immunologic Deficiency Syndromes

Share to rab GTP-Binding Proteins

Share to rab27 GTP-Binding Proteins

Share to Splenomegaly

Share to Syndrome

Source

Identifiers

PMID: 12522785
DOI: 10.1002/ajmg.a.10836

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.PMID 12522785Read ↗

A novel RAB27A mutation in a patient with Griscelli syndrome type 2.Semantic 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 ↗

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

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.Semantic proximity Read ↗

Molecular analysis and clinical findings of Griscelli syndrome patients.Semantic proximity Read ↗

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.Semantic proximity Read ↗

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

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families.Semantic proximity Read ↗

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.Semantic proximity Read ↗

Seizure as the presenting manifestation in Griscelli syndrome type 2.Semantic proximity Read ↗

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

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