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Quoted phrase not found in phrase index: "Baraitser-winter syndrome 2"
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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. Bhoj EJ, et al. Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472488 Free PMC article.
Instead, individuals with SPECCL1 variants have branchial fistulae, omphalocele, diaphragmatic hernias, and uterus didelphis. We also point to the clinical overlap of SPECC1L syndrome with mild Baraitser-Winter craniofrontofacial syndrome: they share s …
Instead, individuals with SPECCL1 variants have branchial fistulae, omphalocele, diaphragmatic hernias, and uterus didelphis. We also point …
Frameshift mutation S368fs in the gene encoding cytoskeletal beta-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.
Greve JN, Schwäbe FV, Pokrant T, Faix J, Di Donato N, Taft MH, Manstein DJ. Greve JN, et al. Eur J Cell Biol. 2022 Apr;101(2):151216. doi: 10.1016/j.ejcb.2022.151216. Epub 2022 Mar 15. Eur J Cell Biol. 2022. PMID: 35313204 Free article.
Heterozygous dominant mutations in the ubiquitously produced cytoskeletal beta-actin isoform lead to a broad range of human disease phenotypes, which are currently classified as three distinct clinical entities termed Baraitser-Winter-Cerebrofrontofacial syndrome …
Heterozygous dominant mutations in the ubiquitously produced cytoskeletal beta-actin isoform lead to a broad range of human disease phenotyp …
The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins.
Greve JN, Marquardt A, Heiringhoff R, Reindl T, Thiel C, Di Donato N, Taft MH, Manstein DJ. Greve JN, et al. Elife. 2024 Mar 6;12:RP93013. doi: 10.7554/eLife.93013. Elife. 2024. PMID: 38446501 Free PMC article.
Various heterozygous cytoskeletal gamma-actin mutations have been shown to cause Baraitser-Winter cerebrofrontofacial syndrome, non-syndromic hearing loss, or isolated eye coloboma. ...Thus, it is likely that p.E334Q-mediated changes in myosin motor ac …
Various heterozygous cytoskeletal gamma-actin mutations have been shown to cause Baraitser-Winter cerebrofrontofacial syndr …