Publication: Response to Cueto-González et al.
Response to Cueto-González et al.
Date
Date
Date
Citations
Zanoni, P., Steindl, K., & Rauch, A. (2022). Response to Cueto-González et al. Genetics in Medicine, 24(3), 757. https://doi.org/10.1016/j.gim.2021.11.006
Abstract
Abstract
Abstract
To the Editor: We read with interest the contribution of Cueto-González et al (Cueto-González AM, Fernández-Álvarez P, Valenzuela Palafoll I, Lasa-Aranzasti A, Vendrell-Bayona T, Tizzano E. Genetics in medicine. Genet Med. 2021) who described an additional patient with NSD2 deficiency caused by the de novo p.D455Efs∗19 truncating variant. The phenotype of the affected individual, characterized by stature below the familial target-height, occipitofrontal circumference in the lower-normal range, and mild to moderate intellectual disabi
Metrics
Downloads
Views
Citations
Additional indexing
Creators (Authors)
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Metrics
Downloads
Views
Citations
Citations
Zanoni, P., Steindl, K., & Rauch, A. (2022). Response to Cueto-González et al. Genetics in Medicine, 24(3), 757. https://doi.org/10.1016/j.gim.2021.11.006
