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Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Yates TM, et al. Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Clin Genet. 2017. PMID: 27625340 Review.
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. ...The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also sugges …
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting m …
Clark-Baraitser syndrome: report of a new case and review of the literature.
Mendicino A, Sabbadini G, Pergola MS. Mendicino A, et al. Clin Dysmorphol. 2005 Jul;14(3):133-135. Clin Dysmorphol. 2005. PMID: 15930902 Review.
We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial features, characterized by a large 'square' forehead, prominent supraorbital ridges, broad nasal tip, prominent lower lip and minor dental anomali …
We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial featur …
E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions.
Brunet M, Vargas C, Larrieu D, Torrisani J, Dufresne M. Brunet M, et al. Int J Mol Sci. 2020 Nov 12;21(22):8515. doi: 10.3390/ijms21228515. Int J Mol Sci. 2020. PMID: 33198194 Free PMC article. Review.
The TRIP12 gene is also referenced as a causative gene associated to intellectual disorders such as Clark-Baraitser syndrome and is clearly implicated in Autism Spectrum Disorder. ...
The TRIP12 gene is also referenced as a causative gene associated to intellectual disorders such as Clark-Baraitser syndrom …