A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families

A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families

<p>Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic variants in the <em>RAB27A</em> gene and characterized by partial albinism, immunodeficiency, and occasional hematological and neurological involvement. We reviewed and analyzed the medic...

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Main Author: Reem Al‐Sulaiman (14776948) (author)
Other Authors: Amna Othman (14152659) (author), Karen El‐Akouri (14776951) (author), Shehab Fareed (14776954) (author), Hajer AlMulla (14776957) (author), Aseel Sukik (14571102) (author), Mariam Al‐Mureikhi (14776960) (author), Noora Shahbeck (14152671) (author), Rehab Ali (14152668) (author), Fatma Al‐Mesaifri (14776963) (author), Sara Musa (14152662) (author), Mariam Al‐Mulla (14776966) (author), Khalid Ibrahim (3853360) (author), Khalid Mohamed (7572353) (author), Maryam Ali Al‐Nesef (14776969) (author), Mohammad Ehlayel (14776972) (author), Tawfeg Ben‐Omran (14776975) (author)
Published: 2020
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
founder effect
GS2
HLH
Qatari
RAB27A
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