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 in a Mexican girl].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) - 1 Jan 2000

Ayala de la Cruz María del Carmen, Ramírez Campos Jorge, Govea Sifuentes Jesús, González Cabello Diana, Calderón Garcidueñas Ana Laura, Moreno Laura, Vargas Almanza Griselda Nelly

Abstract excerpt

Griscelli syndrome is an infrequent disease first described in 1978. It is inherited in autosomal recessive form, and is distinguished by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement and uncontrolled phases of macrophage and lymphocyte activation. We report the case of a female child who started with ataxic gait when she was 23 months old. At physical examination a...

Read the complete abstract on PubMed

Topics

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

Share to Albinism
Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hair Color

Share to Immunologic Deficiency Syndromes

Share to Killer Cells, Natural

Share to Lymphocyte Count

Share to Nerve Degeneration

Share to T-Lymphocyte Subsets

Source

Identifiers

PMID: 12070892

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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 in a Mexican girl].PMID 12070892Read ↗

Griscelli syndrome.Semantic proximity Read ↗

Griscelli syndrome: a new phenotype with circumscribed pigment loss?Semantic proximity Read ↗

Diagnostic and therapeutic caveats in Griscelli syndrome.Semantic proximity Read ↗

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

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

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

Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly.Semantic proximity Read ↗

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

Griscelli's syndrome: clinical features of three siblings.Semantic proximity Read ↗

Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs griscelli syndrome, with rare associationsSemantic 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 ↗

Partial albinism with immunodeficiency (Griscelli syndrome).Semantic proximity Read ↗

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