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Quoted phrase not found in phrase index: "Ritscher-Schinzel syndrome 2"
Page 1
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Eur J Med Genet. 2022 Nov;65(11):104624. doi: 10.1016/j.ejmg.2022.104624. Epub 2022 Sep 18.
Eur J Med Genet. 2022.
PMID: 36130690
Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cerebellar and cardiovascular malformations. ...The first two genes described were the autosomal recessive inherited gene WASHC5 associated with …
Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cere …
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.
Bu H, Liu L, Hu S, Tan Z, Zhao T.
Bu H, et al.
Mol Med Rep. 2019 May;19(5):3831-3840. doi: 10.3892/mmr.2019.10043. Epub 2019 Mar 15.
Mol Med Rep. 2019.
PMID: 30896870
The copy number variants (CNVs) were determined by conducting a single nucleotide polymorphism (SNP) array with Illumina HumanOmni1-Quad Beadchip, while information on other gene mutations was obtained from targeted sequencing. The functions of gene mutations were then predict …
The copy number variants (CNVs) were determined by conducting a single nucleotide polymorphism (SNP) array with Illumina HumanOmni1-Quad Bea …
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