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Page 1
Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.
Khorram E, Tabatabaiefar MA, Yaghini O, Khorrami M, Yazdani V, Fakhr F, Amini M, Kheirollahi M. Khorram E, et al. Mol Genet Genomics. 2023 Mar;298(2):485-493. doi: 10.1007/s00438-022-01971-6. Epub 2023 Jan 18. Mol Genet Genomics. 2023. PMID: 36651988 Review.
Griscelli syndrome type 1 (GS1) is a rare inherited autosomal recessive disease caused by a deleterious variant in the MYO5A gene and characterized by general hypopigmentation, neurological symptoms, motor disability, hypotonia, and vision abnormality. ...
Griscelli syndrome type 1 (GS1) is a rare inherited autosomal recessive disease caused by a deleterious variant in the MYO5A g …
Griscelli syndrome.
Malhotra AK, Bhaskar G, Nanda M, Kabra M, Singh MK, Ramam M. Malhotra AK, et al. J Am Acad Dermatol. 2006 Aug;55(2):337-40. doi: 10.1016/j.jaad.2005.11.1056. J Am Acad Dermatol. 2006. PMID: 16844525
On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection during an accelerated phase of the disease....
On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection dur …
Diagnostic and therapeutic caveats in Griscelli syndrome.
Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM. Castaño-Jaramillo LM, et al. Scand J Immunol. 2021 Jun;93(6):e13034. doi: 10.1111/sji.13034. Epub 2021 Mar 20. Scand J Immunol. 2021. PMID: 33660295 Free article. Review.
Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. ...
Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currentl …
Griscelli syndrome.
Ariffin H, Geikowski A, Chin TF, Chau D, Arshad A, Abu Bakar K, Krishnan S. Ariffin H, et al. Med J Malaysia. 2014 Aug;69(4):193-4. Med J Malaysia. 2014. PMID: 25500851 Free article.
We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). ...
We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocyt …
Griscelli Syndrome Type 3 in Siblings.
Gupta I, Dhankar N, Dayal S, Chhabra S. Gupta I, et al. Int J Trichology. 2022 Jan-Feb;14(1):38-40. doi: 10.4103/ijt.ijt_42_20. Epub 2022 Feb 1. Int J Trichology. 2022. PMID: 35300101 Free PMC article. No abstract available.
Griscelli syndrome.
Emanuel PO, Sternberg LJ, Phelps RG. Emanuel PO, et al. Skinmed. 2007 May-Jun;6(3):147-9. doi: 10.1111/j.1540-9740.2007.05783.x. Skinmed. 2007. PMID: 17483661
The presumed diagnosis before pathologic examination was Chediak-Higashi syndrome. Hematoxylin and eosin stain tests revealed prominent melanocytes in the basal layer of the epidermis. ...Based on the clinical features and the pathologic findings, a diagnosis of Griscel …
The presumed diagnosis before pathologic examination was Chediak-Higashi syndrome. Hematoxylin and eosin stain tests revealed promine …
[Griscelli syndrome type 3: A new case].
Kassem Youssef H, Ramstein C, Ginglinger E, Chouta Ngaha F, Nojavan H, Michel C. Kassem Youssef H, et al. Ann Dermatol Venereol. 2018 Dec;145(12):785-789. doi: 10.1016/j.annder.2018.07.030. Epub 2018 Oct 30. Ann Dermatol Venereol. 2018. PMID: 30389201 Review. French.
INTRODUCTION: Griscelli syndrome (GS) is a rare autosomal-recessive genetic disease characterized by hypopigmentation of skin and hair. ...DNA sequencing showed a homozygous C103T (R35W) transition in exon 1 of MLPH, confirming Griscelli syndrome type …
INTRODUCTION: Griscelli syndrome (GS) is a rare autosomal-recessive genetic disease characterized by hypopigmentation of skin …
Griscelli syndrome type 2.
Gailson T, Pandit S, Chandrasekaran S. Gailson T, et al. QJM. 2020 Feb 1;113(2):137. doi: 10.1093/qjmed/hcz144. QJM. 2020. PMID: 31199490 No abstract available.
Griscelli syndrome: a model system to study vesicular trafficking.
Van Gele M, Dynoodt P, Lambert J. Van Gele M, et al. Pigment Cell Melanoma Res. 2009 Jun;22(3):268-82. doi: 10.1111/j.1755-148X.2009.00558.x. Epub 2009 Feb 25. Pigment Cell Melanoma Res. 2009. PMID: 19243575 Review.
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. ...
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) …
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Maimaris J, Roa-Bautista A, Sohail M, Booth C, Cugno C, Chenchara L, Omran TB, Hacohen Y, Lim M, Gilmour K, Griffiths G, Rao K, Elfeky R, Kusters M. Maimaris J, et al. J Clin Immunol. 2024 Nov 28;45(1):50. doi: 10.1007/s10875-024-01842-2. J Clin Immunol. 2024. PMID: 39607447 Free PMC article.
Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. ...
Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic a …
566 results