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Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
Am J Med Genet A. 2020 Feb;182(2):296-302. doi: 10.1002/ajmg.a.61447. Epub 2019 Dec 17.
Am J Med Genet A. 2020.
PMID: 31846207
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.
Wei H, Krishnappa J, Lin G, Kavalloor N, Lim JY, Goh CJ, Jamuar SS, Thomas T, Tan EC.
Wei H, et al.
Am J Med Genet A. 2020 Mar;182(3):576-578. doi: 10.1002/ajmg.a.61444. Epub 2019 Dec 12.
Am J Med Genet A. 2020.
PMID: 31833200
No abstract available.
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