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PAMI syndrome: A rare cause that can be easily misdiagnosed.
Xu XM, Huang H, Ding F, Yang Z, Wang J, Jin YL. Xu XM, et al. Among authors: wang j. Am J Med Genet A. 2021 Oct;185(10):3074-3082. doi: 10.1002/ajmg.a.62367. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047005
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, Chen L, Chang G, Tang J, Yao R, Yu T, Wang X, Fu W, Fu Q, Shen Y, Alkuraya FS, Machol K, Wang J. Li N, et al. Among authors: wang x, wang j. EBioMedicine. 2024 Jan;99:104940. doi: 10.1016/j.ebiom.2023.104940. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38154379 Free PMC article.
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