Novel RAB27A Mutation Distinguishes Hypopigmentation From Cytotoxic Dysfunction in Griscelli Syndrome Type 2

2013 ◽  
Vol 131 (2) ◽  
pp. AB73
Author(s):  
Sanny K. Chan ◽  
Pinaki Banerjee ◽  
Lenora Mendoza Noroski ◽  
Linda Monaco-Shawver ◽  
Javier Chinen ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Griscelli Syndrome

A hemophagocytic syndrome revealing a Griscelli syndrome type 2

2013 ◽  
Vol 71 (4) ◽  
pp. 461-464
Author(s):  
Selim Jennane ◽  
Maria El Kababri ◽  
Laila Hessissen ◽  
Amina Kili ◽  
Mohamed Nacer Nachef ◽  
...  
Keyword(s):  
Hemophagocytic Syndrome ◽  
Syndrome Type ◽  
Griscelli Syndrome

Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot

2008 ◽  
Vol 28 (4) ◽  
pp. 384-389 ◽  
Author(s):  
Setareh Mamishi ◽  
Mohammad Hossein Modarressi ◽  
Babak Pourakbari ◽  
Banafshe Tamizifar ◽  
Fatemeh Mahjoub ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Novel Mutations ◽  
Griscelli Syndrome

Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2)

2014 ◽  
Vol 94 (6) ◽  
pp. 1057-1060 ◽  
Author(s):  
Martin Henkes ◽  
Jürgen Finke ◽  
Klaus Warnatz ◽  
Sandra Ammann ◽  
Udo Zur Stadt ◽  
...  
Keyword(s):  
Adult Female ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Late Onset ◽  
Syndrome Type ◽  
Griscelli Syndrome

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

2009 ◽  
Vol 54 (4) ◽  
pp. 563-572 ◽  
Author(s):  
Marie Meeths ◽  
Yenan T. Bryceson ◽  
Eva Rudd ◽  
Chengyun Zheng ◽  
Stephanie M. Wood ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Syndrome Type ◽  
Griscelli Syndrome

scholarly journals Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2

2010 ◽  
Vol 101 (1) ◽  
pp. 62-65 ◽  
Author(s):  
Lisa M. Vincent ◽  
Fred Gilbert ◽  
Jennifer I. DiPace ◽  
Carla Ciccone ◽  
Thomas C. Markello ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Griscelli Syndrome

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

2017 ◽  
Vol 38 (10) ◽  
pp. 1355-1359 ◽  
Author(s):  
Virginie Grandin ◽  
Fernando E Sepulveda ◽  
Nathalie Lambert ◽  
Mofareh Al Zahrani ◽  
Eman Al Idrissi ◽  
...  
Keyword(s):  
Genetic Diagnosis ◽  
Syndrome Type ◽  
Griscelli Syndrome

P230 – 1840 Griscelli syndrome type 2, an exceptional onset

2013 ◽  
Vol 17 ◽  
pp. S116
Author(s):  
N Olabarrieta ◽  
MJ Martinez ◽  
I Astigarraga
Keyword(s):  
Syndrome Type ◽  
Griscelli Syndrome
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