Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair differential diagnosis of the 3 types of griscelli syndrome

Journal of Pediatric Hematology/Oncology

Volumn 32, Issue 6, 2010, Pages 494-496

  Al Idrissi, Eman ^a   Elghazali, Geyhad ^a   Alzahrani, Mofarah ^a   GaelMenasche ^b   Schmid, Jana Pachlopnik ^b   De Saint Basile, Geneviève ^b  

^a KING FAHAD MEDICAL CITY   (Saudi Arabia)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Hemophagocytic syndrome; Melanophilin

Indexed keywords

GENOMIC DNA; MELANOPHILIN; PROTEIN; UNCLASSIFIED DRUG; MLPH PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARTICLE; ARTIFICIAL VENTILATION; AUTOIMMUNE DISEASE; BRAIN HEMORRHAGE; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; ECHOGRAPHY; EXON; EYELASH; GENE MUTATION; GRISCELLI SYNDROME; HAIR DISCOLORATION; HOMOZYGOTE; HUMAN; HYPOPIGMENTATION; INFANT; INTENSIVE CARE UNIT; MALE; MICROSCOPY; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN INTENSIVE CARE; PREMATURE FETUS MEMBRANE RUPTURE; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT DURATION; GENETICS; NEWBORN; PATHOPHYSIOLOGY; PIEBALDISM; SYNDROME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CEREBRAL HEMORRHAGE; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; PIEBALDISM; PREMATURE BIRTH; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SYNDROME;

EID: 77955874330     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181e34dc9     Document Type: Article

References (6)

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2. Menasche G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophago- cytic syndrome. Nat Genet. 2000;25:173-176.
3. Menasche G, Ho CH, Sanal O, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003;112:450-456.
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6. Pachlopnik Schmid J, Moshous D, Boddaert N, et al. Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients. Blood. 2009;114: 211-218.