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Keywords: Trisomy 21
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Journal Articles
In collection:
Developmental Disorders
Kourtney Sloan, Jared Thomas, Matthew Blackwell, Deanna Voisard, Eva Lana-Elola, Sheona Watson-Scales, Daniel L. Roper, Joseph M. Wallace, Elizabeth M. C. Fisher, Victor L. J. Tybulewicz, Randall J. Roper
Journal:
Disease Models & Mechanisms
Dis Model Mech (2023) 16 (4): dmm049927.
Published: 26 April 2023
...), or trisomy 21 (Ts21), affecting ∼1 in 800 live births ( de Graaf et al., 2017 ), is not well understood. Trisomy of human chromosome 21 (Hsa21) produces a dosage imbalance of the genes on Hsa21, which can result in altered protein levels to cause deficits in cognitive, skeletal, cardiac, immune and other...
Includes: Supplementary data
Journal Articles
In collection:
Developmental Disorders
Anna J. Moyer, Fabian-Xosé Fernandez, Yicong Li, Donna K. Klinedinst, Liliana D. Florea, Yasuhiro Kazuki, Mitsuo Oshimura, Roger H. Reeves
Journal:
Disease Models & Mechanisms
Dis Model Mech (2023) 16 (4): dmm049712.
Published: 13 April 2023
...Anna J. Moyer; Fabian-Xosé Fernandez; Yicong Li; Donna K. Klinedinst; Liliana D. Florea; Yasuhiro Kazuki; Mitsuo Oshimura; Roger H. Reeves ABSTRACT Trisomy 21 and mutations in the Sonic hedgehog (SHH) signaling pathway cause overlapping and pleiotropic phenotypes including cerebellar hypoplasia...
Includes: Supplementary data
