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Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N. Simmers R, et al. Ophthalmic Genet. 2022 Oct;43(5):699-702. doi: 10.1080/13816810.2022.2089358. Epub 2022 Jun 27. Ophthalmic Genet. 2022. PMID: 35762114
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS), first described in 1993, is a rare autosomal dominant disease caused by pathogenic variants in the SMARCA2 gene on chromosome 9p24.3. ...
BACKGROUND: Nicolaides-Baraitser syndrome (NCBRS), first described in 1993, is a rare autosomal dominant disease caused …
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM. Pantel JT, et al. J Inherit Metab Dis. 2018 May;41(3):533-539. doi: 10.1007/s10545-018-0174-3. Epub 2018 Apr 5. J Inherit Metab Dis. 2018. PMID: 29623569 Free PMC article.
For a dysmorphic comparison we used Smith-Lemli-Opitz syndrome as another inborn error of metabolism and Nicolaides-Baraitser syndrome as another disorder that is also characterized by coarse facies. ...
For a dysmorphic comparison we used Smith-Lemli-Opitz syndrome as another inborn error of metabolism and Nicolaides-Baraitser …