Griscelli disease (OMIM 214450) is a rare autosomal recessive disorder characterized by
pigmentary dilution, variable cellular immunodeficiency and onset of acute phases of …

Abstract Griscelli syndrome (GS, MIM 214450), a rare, autosomal recessive disorder, results
in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in …

Griscelli syndrome is a rare autosomal recessive disease characterized by pigment dilution,
variable cellular immunodeficiency, and an acute phase of uncontrolled T lymphocyte and …

Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial
albinism, along with immunologic abnormalities or severe neurological impairment or both …

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 …

Actin‐and microtubule‐based motors can propel different cargos along filaments. Within
cells, they control the distribution of membrane‐bound compartments by performing …

Griscelli disease is a rare autosomal recessive disorder characterized by diffuse pigmentary
dilution and occurrence of acute phases of uncontrolled lymphocyte and macrophage …

Usher syndrome is the most common form of combined blindness and deafness1. The
predominant form, type 1B, results from defects in the gene encoding myosin VIIa (ref. 2) …

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in
either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. The three GS …

Sir-Williams syndrome (WS) is believed to be a contiguous gene syndrome caused by
deletion of elastin and of other unknown genes1• 2 on chromosome 7. WS is generally …