Pili torti and sensory neural hearing loss.
作者信息
Robinson G C, Johnston M M
出版信息
J Pediatr. 1967 Apr;70(4):621-3. doi: 10.1016/s0022-3476(67)80050-7.
PMID:6019757
Abstract
摘要
相似文献
1
Pili torti and sensory neural hearing loss.
J Pediatr. 1967 Apr;70(4):621-3. doi: 10.1016/s0022-3476(67)80050-7.
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Sensorineural hearing loss and pili torti.
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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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Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.同胞中的未知综合征：扭发、生长发育迟缓及轻度神经学异常。
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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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Björnstad syndrome and pili torti.比约恩斯塔德综合征与扭曲发
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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。
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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.
2
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.一种性腺功能减退、脱发、糖尿病、智力发育迟缓、耳聋和心电图异常的综合征。
J Med Genet. 1983 Jun;20(3):216-9. doi: 10.1136/jmg.20.3.216.
3
Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.
J Inherit Metab Dis. 1980;3(2):49-53. doi: 10.1007/BF02312522.
4
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.同胞中的未知综合征：扭发、生长发育迟缓及轻度神经学异常。
J Med Genet. 1992 Jul;29(7):509-10.
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