Literature DB >> 15475639

Griscelli syndrome: Rab 27a mutation.

S R Sheela1, Manoj Latha, Susy J Injody.   

Abstract

An infant with partial albinism was suspected to have Chediak-Higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.

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Year:  2004        PMID: 15475639

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN: 0019-6061            Impact factor:   1.411


  7 in total

1.  Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.

Authors:  Kirtisudha Mishra; Shilpy Singla; Suvasini Sharma; Renu Saxena; Vineeta Vijay Batra
Journal:  Korean J Pediatr       Date:  2014-02-24

2.  Chédiak-higashi syndrome: a case report.

Authors:  Shashikant C U Patne; Sandip Kumar; Narendra Kumar Bagri; Ashok Kumar; Jyoti Shukla
Journal:  Indian J Hematol Blood Transfus       Date:  2012-02-01       Impact factor: 0.900

3.  An Indian boy with griscelli syndrome type 2: case report and review of literature.

Authors:  Ankur Singh; Amit Garg; Seema Kapoor; Nita Khurana; Miriam Entesarian; Bianca Tesi
Journal:  Indian J Dermatol       Date:  2014-07       Impact factor: 1.494

4.  Light microscopy of the hair: a simple tool to "untangle" hair disorders.

Authors:  Keshavmurthy A Adya; Arun C Inamadar; Aparna Palit; Ragunatha Shivanna; Niranjan S Deshmukh
Journal:  Int J Trichology       Date:  2011-01

5.  Griscelli syndrome: a case report.

Authors:  Seyed Ebrahim Mansouri Nejad; Mohammad Javad Yazdan Panah; Naser Tayyebi Meibodi; Farah Ashraf Zadeh; Javad Akhondian; Mehran Beiraghi Toosi; Hossein Eslamieh
Journal:  Iran J Child Neurol       Date:  2014

6.  Bart's Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia.

Authors:  Muhammad Saeed; Anwar Ul Haq; Khaqan Qadir
Journal:  Iran J Child Neurol       Date:  2014

7.  Silvery grey hair: clue to diagnose immunodeficiency.

Authors:  Ms Sahana; S Sacchidanand; R Hiremagalore; Gs Asha
Journal:  Int J Trichology       Date:  2012-04
  7 in total

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