Griscelli syndrome type 1: a novel pathogenic variant, and review of literature
Author:
Funder
Isfahan University of Medical Sciences
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-022-01971-6.pdf
Reference22 articles.
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2. Al-Sulaiman R, Othman A, El-Akouri K, Fareed S, AlMulla H, Sukik A, Al-Mureikhi M, Shahbeck N, Ali R, Al-Mesaifri F (2020) A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families. Am J Med Genet A 182:2570–2580
3. Çağdaş D, Özgür TT, Asal GT, Tezcan İ, Metin A, Lambert N, de Saint BG, Sanal Ö (2012) Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. Eur J Pediatr 171:1527–1531
4. Carboni P, Pisani F, Crescenzi A, Villani C (2002) Congenital hypotonia with favorable outcome. Pediatr Neurol 26:383–386. https://doi.org/10.1016/s0887-8994(02)00379-x
5. Charng W-L, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H (2016) Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics 9:1–14
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