Griscelli Syndrome Type 2: A Rare Case With Apparently Normal Skin and Hair Pigmentation
Sign Up to like & getrecommendations! Published in 2020 at "Acta medica Iranica"
DOI: 10.18502/acta.v58i1.3706
Abstract: Griscelli syndrome (GS) is a rare autosomal recessive disease that affects hair, skin, and immune system. Here, we describe an 8.5-month-old infant with multiple admissions due to fever, petechial purpura, and several recurrent vomiting episodes… read more here.
Keywords: hair skin; hair; syndrome type; case ... See more keywords
Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.896943
Abstract: Melanophilin (MLPH) functions as a linker between RAB27A and myosin Va (MYO5A) in regulating skin pigmentation during the melanosome transport process. The MYO5A-MLPH-RAB27A ternary protein complex is required for anchoring mature melanosomes in the peripheral… read more here.
Keywords: missense mutation; patient; mlph; griscelli syndrome ... See more keywords