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Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
Am J Med Genet A. 2021 Feb;185(2):370-376. doi: 10.1002/ajmg.a.61957. Epub 2020 Nov 11.
Am J Med Genet A. 2021.
PMID: 33179433
PLXNA2 as a candidate gene in patients with intellectual disability.
Altuame FD, Shamseldin HE, Albatti TH, Hashem M, Ewida N, Abdulwahab F, Alkuraya FS.
Altuame FD, et al.
Am J Med Genet A. 2021 Dec;185(12):3859-3865. doi: 10.1002/ajmg.a.62440. Epub 2021 Jul 29.
Am J Med Genet A. 2021.
PMID: 34327814
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The natural history of infantile neuroaxonal dystrophy.
Altuame FD, Foskett G, Atwal PS, Endemann S, Midei M, Milner P, Salih MA, Hamad M, Al-Muhaizea M, Hashem M, Alkuraya FS.
Altuame FD, et al.
Orphanet J Rare Dis. 2020 May 1;15(1):109. doi: 10.1186/s13023-020-01355-2.
Orphanet J Rare Dis. 2020.
PMID: 32357911
Free PMC article.
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