Pili torti with deafness (Bjørnstad syndrome). Report of a family.
作者信息
Voigtländer V
出版信息
Dermatologica. 1979;159(1):50-4. doi: 10.1159/000250561.
PMID:478043
Abstract
摘要
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1
Pili torti with deafness (Bjørnstad syndrome). Report of a family.
Dermatologica. 1979;159(1):50-4. doi: 10.1159/000250561.
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Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome.一个患有扭发综合征和感音神经性听力损失的家庭中的三名成员：比约恩斯塔德综合征。
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The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.比约恩斯塔德综合征（感音神经性听力损失和扭曲发）致病基因定位于2号染色体q34-36区域。
Am J Hum Genet. 1998 May;62(5):1107-12. doi: 10.1086/301837.
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Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature.
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Sensorineural hearing loss and pili torti.
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Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.BCS1L基因中的新型复合杂合突变导致两名兄弟姐妹患比约恩斯塔德综合征。
Am J Med Genet A. 2017 May;173(5):1348-1352. doi: 10.1002/ajmg.a.38146. Epub 2017 Mar 21.
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Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.BCS1L基因错义突变是比约恩斯塔德综合征的病因。
N Engl J Med. 2007 Feb 22;356(8):809-19. doi: 10.1056/NEJMoa055262.
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Morphological analyses in fragility of pili torti with Björnstad syndrome.Björnstad综合征中扭发脆弱性的形态学分析。
J Dermatol. 2017 Apr;44(4):455-458. doi: 10.1111/1346-8138.13700. Epub 2016 Nov 24.
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Björnstad syndrome in a patient with mental retardation.一名患有智力障碍患者的比约恩斯塔德综合征。
Genet Couns. 1998;9(3):201-4.
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Pili torti with congenital deafness (Bjornstad's syndrome)--report of three cases in one family, suggesting autosomal dominant transmission.扭发伴先天性耳聋（比约恩斯塔德综合征）——一个家族中三例病例报告，提示常染色体显性遗传。
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引用本文的文献
1
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.比约恩斯塔德综合征（感音神经性听力损失和扭曲发）致病基因定位于2号染色体q34-36区域。
Am J Hum Genet. 1998 May;62(5):1107-12. doi: 10.1086/301837.
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