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Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome.
Am J Med Genet A. 2022 Jun;188(6):1881-1884. doi: 10.1002/ajmg.a.62707. Epub 2022 Feb 28.
Am J Med Genet A. 2022.
PMID: 35224863
Here, we report two Turkish patients with two novel variants [c.2291_2292insC (p.Ser765LeufsTer6) and c.488G>A (p.Cys63Tyr)] in the SCARF2 gene. In silico analysis predicted that both of these novel variants were pathogenic. To the best of our knowledge, this is the fir …
Here, we report two Turkish patients with two novel variants [c.2291_2292insC (p.Ser765LeufsTer6) and c.488G>A (p.Cys63Tyr)] in the SCARF …
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, Jerome-Majewska LA, Patel MS.
Niederhoffer KY, et al.
Am J Med Genet A. 2016 Sep;170(9):2310-21. doi: 10.1002/ajmg.a.37831. Epub 2016 Jul 4.
Am J Med Genet A. 2016.
PMID: 27375131
SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in SCARF2 and predicted damaging mutations in several genes, most notably DGCR2 (p.P75L) and NCAM2 (p.S147G), both possible candidates for this child's intellectual disability. …
SNP microarray and whole exome sequencing identified a homozygous frameshift mutation (p.L870V) in SCARF2 and predicted damaging muta …
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Simultaneous Midface Advancement and Orthognathic Surgery: A Powerful Technique for Managing Midface Hypoplasia and Malocclusion.
Hammoudeh JA, Goel P, Wolfswinkel EM, Fahradyan A, Vartanian E, Garg R, Williams MS, Khansa I, Urata MM.
Hammoudeh JA, et al.
Plast Reconstr Surg. 2020 Jun;145(6):1067e-1072e. doi: 10.1097/PRS.0000000000006816.
Plast Reconstr Surg. 2020.
PMID: 32459778
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