Partial albinism (Q83801): Difference between revisions
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Síndrome de Griscelli é um transtorno autossômico recessivo raro que resulta na diluição pigmentar da pele e do cabelo (cabelo prateado), na presença de grandes aglomerados de pigmento nas hastes do cabelo e no acúmulo de melanossomos nos melanócitos. Pode estar associada a anormalidades neurológicas (tipo 1) ou hematológicas (tipo 2). | |||
| description / en | description / en | ||
Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. It may be associated with neurological (type 1) or haematological (type 2) abnormalities. | |||
Revision as of 09:09, 15 August 2026
Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. It may be associated with neurological (type 1) or haematological (type 2) abnormalities.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1881966012 |
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| English | Partial albinism |
Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. It may be associated with neurological (type 1) or haematological (type 2) abnormalities. |
