Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene.
作者信息
Winer N, Kyndt F, Paumier A, David A, Isidor B, Quentin M, Jouitteau B, Sanyas P, Philippe H J, Hernandez A, Krakow D, Le Caignec C
机构信息
CHU de Nantes, Service de Gynécologie Obstétrique, Nantes, France.
出版信息
Prenat Diagn. 2009 Feb;29(2):172-4. doi: 10.1002/pd.2164.
Abstract
摘要
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本文引用的文献
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2
Mutations in two regions of FLNB result in atelosteogenesis I and III.FLNB两个区域的突变导致Ⅰ型和Ⅲ型atelosteogenesis。
Hum Mutat. 2006 Jul;27(7):705-10. doi: 10.1002/humu.20348.
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Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios.一名早产女婴患散发性拉森综合征，最初因羊水过少被诊断为姿势性畸形。
Am J Perinatol. 2006 Jan;23(1):71-4. doi: 10.1055/s-2005-923434.
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Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae.三维超声诊断拉森综合征并进一步描述神经后遗症特征
Ultrasound Obstet Gynecol. 2004 Jul;24(1):89-93. doi: 10.1002/uog.1080.
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Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29.
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Prenatal sonographic diagnosis of Larsen syndrome.
J Ultrasound Med. 2000 Jun;19(6):419-21. doi: 10.7863/jum.2000.19.6.419.
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Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.拉森综合征的临床变异性：在超声检测到严重受影响胎儿后对父亲进行诊断。
Clin Genet. 2000 Feb;57(2):148-50. doi: 10.1034/j.1399-0004.2000.570210.x.
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Prenat Diagn. 1991 Apr;11(4):215-25. doi: 10.1002/pd.1970110403.
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