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A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.
Int J Dev Neurosci. 2023 Aug;83(5):479-485. doi: 10.1002/jdn.10280. Epub 2023 Jun 19.
Int J Dev Neurosci. 2023.
PMID: 37336770
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.
Uzman CY, Çankaya T, Güleryüz H, Ülgenalp A, Bozkaya ÖG.
Uzman CY, et al.
Skeletal Radiol. 2023 Jan;52(1):115-118. doi: 10.1007/s00256-022-04105-6. Epub 2022 Jul 1.
Skeletal Radiol. 2023.
PMID: 35776137
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