ARCN1相关矮身材-小头畸形-下颌发育不良-发育迟缓综合征1例

石磊, 田红燕, 冉雯雯, 周蔚然

中国儿童保健杂志 ›› 2022, Vol. 30 ›› Issue (1) : 113-116.

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中国儿童保健杂志 ›› 2022, Vol. 30 ›› Issue (1) : 113-116. DOI: 10.11852/zgetbjzz2021-0551
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ARCN1相关矮身材-小头畸形-下颌发育不良-发育迟缓综合征1例

  • 石磊1, 田红燕1, 冉雯雯1, 周蔚然2
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石磊, 田红燕, 冉雯雯, 周蔚然. ARCN1相关矮身材-小头畸形-下颌发育不良-发育迟缓综合征1例[J]. 中国儿童保健杂志. 2022, 30(1): 113-116 https://doi.org/10.11852/zgetbjzz2021-0551
中图分类号: R596.1   

参考文献

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[3] Tidwell T, Deshotel M, Palumbos J, et al.Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay[J].Cold Spring Harb Mol Case Stud, 2020, 6(6):a005728.
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[7] Jackson LP.Structure and mechanism of COPI vesicle biogenesis[J].Curr Opin Cell Biol, 2014, 29:67-73.
[8] Di Gregorio E, Riberi E, Belligni EF, et al.Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes[J].Clin Genet, 2017, 92(4):415-422.
[9] Xu X, Kedlaya R, Higuchi H, et al.Mutation in archain 1, a subunit of COPI coatomer complex, causes diluted coat color and Purkinje cell degeneration[J].PLoS Genet, 2010, 6(5):e1000956.
[10] Faini M, Beck R, Wieland FT, et al.Vesicle coats:structure, function, and general principles of assembly[J].Trends Cell Biol, 2013, 23(6):279-288.
[11] Park SY, Yang JS, Schmider AB, et al.Coordinated regulation of bidirectional COPI transport at the Golgi by CDC42[J].Nature,2015, 521(7553):529-532.

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