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Atelosteogenesis syndromes: a review, with comments on their pathogenesis.
Sillence D, Worthington S, Dixon J, Osborn R, Kozlowski K. Sillence D, et al. Pediatr Radiol. 1997 May;27(5):388-96. doi: 10.1007/s002470050154. Pediatr Radiol. 1997. PMID: 9133349 Review.
The review confirms the nosologic grouping of atelosteogenesis type I with boomerang dysplasia and the clinical and radiographic overlap of features between atel- osteogenesis I and atelosteogene- sis II (synonymous with De la Chapelle dysplasia) and a group of patients with a …
The review confirms the nosologic grouping of atelosteogenesis type I with boomerang dysplasia and the clinical and radiographic overlap of …
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
S UK, Sankar S, Younes S, D TK, Ahmad MN, Okashah SS, Kamaraj B, Al-Subaie AM, C GPD, Zayed H. S UK, et al. Molecules. 2020 Nov 26;25(23):5543. doi: 10.3390/molecules25235543. Molecules. 2020. PMID: 33255942 Free PMC article.
The four autosomal dominant disorders that are associated with FLNB variants are Larsen syndrome, atelosteogenesis type I (AOI), atelosteogenesis type III (AOIII), and boomerang dysplasia (BD). Despite the intense clustering of FLNB variants contributing to t …
The four autosomal dominant disorders that are associated with FLNB variants are Larsen syndrome, atelosteogenesis type I (AOI), ateloste …