Add to ORKGGriscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair, hemophagocytic lymphohistiocytosis and characteristic light microscopy findings in scalp hair shaft seen as large irregular clumps of pigment as opposed to the evenly distributed pigment along the hair shaft without any clumps. We describe a boy with classic features of Griscelli syndrome type 2 from Pakistan in whom a homozygous mutation in the RAB27A gene was identified that showed a single base substitution (c.598C>T) predicted to cause premature protein termination (p.Arg200*). We also present a clinical approach to silver blonde hair differe...
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary dise...
initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microsco...
Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, ...
AbstractGriscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the R...
Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of t...
Abstract:Griscelli syndrome (GS) is a rare disease first described in 1978. It is inherited in autos...
Griscelli syndrome was first described by Griscelli and Siccardi in 1978 in a hospital in Paris. It ...
Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair ('partia...
Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair('partial...
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1,...
How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akho...
Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution ...
Background. Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mut...
Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution ...
WOS: 000182400800003PubMed ID: 12522785We present an eleven-year-old female patient who was referred...
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary dise...
initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microsco...
Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, ...
AbstractGriscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the R...
Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of t...
Abstract:Griscelli syndrome (GS) is a rare disease first described in 1978. It is inherited in autos...
Griscelli syndrome was first described by Griscelli and Siccardi in 1978 in a hospital in Paris. It ...
Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair ('partia...
Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair('partial...
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1,...
How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akho...
Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution ...
Background. Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mut...
Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution ...
WOS: 000182400800003PubMed ID: 12522785We present an eleven-year-old female patient who was referred...
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary dise...
initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microsco...
Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, ...