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SMAD6 variants in nonsyndromic craniosynostosis.

作者信息

Timberlake Andrew T

机构信息

Hansjörg Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY, USA.

出版信息

Eur J Hum Genet. 2023 Jun;31(6):611-612. doi: 10.1038/s41431-023-01317-9. Epub 2023 Feb 16.

Abstract
摘要

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本文引用的文献

1
Clinical interest of molecular study in cases of isolated midline craniosynostosis.
Eur J Hum Genet. 2023 Jun;31(6):621-628. doi: 10.1038/s41431-023-01295-y. Epub 2023 Feb 3.
2
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Hum Genet. 2023 Jan;142(1):21-32. doi: 10.1007/s00439-022-02477-2. Epub 2022 Aug 23.
5
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5.
6
The development, patterning and evolution of neural crest cell differentiation into cartilage and bone.
Bone. 2020 Aug;137:115409. doi: 10.1016/j.bone.2020.115409. Epub 2020 May 14.
7
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Hum Genet. 2020 Aug;139(8):1077-1090. doi: 10.1007/s00439-020-02157-z. Epub 2020 Apr 7.
8
SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis.
Plast Reconstr Surg. 2020 Jan;145(1):117e-125e. doi: 10.1097/PRS.0000000000006319.
9
Genetics of Nonsyndromic Craniosynostosis.
Plast Reconstr Surg. 2018 Jun;141(6):1508-1516. doi: 10.1097/PRS.0000000000004374.
10
A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element.
Am J Med Genet A. 2017 Nov;173(11):2893-2897. doi: 10.1002/ajmg.a.38392. Epub 2017 Oct 6.

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