A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-06748-2.pdf
Reference14 articles.
1. Zhong CS, Huang JT, Nambudiri VE (2019) Revisiting the history of the “Mongolian spot”: the background and implications of a medical term used today. Pediatr Dermatol 36(5):755–757. https://doi.org/10.1111/pde.13858
2. Sapadin AN, Friedman IS (1998) Extensive Mongolian spots associated with Hunter syndrome. J Am Acad Dermatol 39(6):1013–1015. https://doi.org/10.1016/s0190-9622(98)70280-4
3. Mimouni-Bloch A, Finezilber Y, Rothschild M, Raas-Rothschild A (2016) Extensive Mongolian spots and lysosomal storage diseases. J Pediatr 170:333-e1. https://doi.org/10.1016/j.jpeds.2015.11.009
4. Leung AK, Robson WL (1993) Mongolian spots and GM1 gangliosidosis type one. J R Soc Med 86(2):120–1
5. Gupta D, Thappa DM (2013) Mongolian spots: how important are they? World J Clin Cases 1(8):230–2. https://doi.org/10.12998/wjcc.v1.i8.230
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