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Defect of neutrophil mobility with dominant inheritance in a family with Waardenberg's syndrome.
Arch Dis Child. 1981 Apr;56(4):279-82. doi: 10.1136/adc.56.4.279.
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Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome.
Arch Dis Child. 1981 Oct;56(10):814. doi: 10.1136/adc.56.10.814.
3
Heterogeneity in Waardenburg syndrome.
Am J Hum Genet. 1977 Sep;29(5):468-85.
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Upper limb involvement in the Klein-Waardenburg syndrome.
Am J Med Genet. 1982 Apr;11(4):425-33. doi: 10.1002/ajmg.1320110407.
5
Congenital clasped thumb combined with Waardenburg syndrome in three generations of one family: an undescribed congenital anomalies complex.
J Pediatr Orthop. 1984 Aug;4(4):472-6. doi: 10.1097/01241398-198408000-00017.
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White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.
J Pediatr. 1981 Sep;99(3):432-5. doi: 10.1016/s0022-3476(81)80339-3.
7
A coloured family showing features of Waardenburg's syndrome.
S Afr Med J. 1970 Apr 4;44(14):412-3.
8
Auditory and vestibular findings in Waardenburg's type II syndrome.
J Laryngol Otol. 1989 Dec;103(12):1130-3. doi: 10.1017/s0022215100111181.
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Germ-line mosaicism in Waardenburg syndrome.
Clin Genet. 1991 Mar;39(3):194-8. doi: 10.1111/j.1399-0004.1991.tb03011.x.
10
Ophthalmological findings in 34 patients with Waardenburg syndrome.
J Pediatr Ophthalmol Strabismus. 1978 Nov-Dec;15(6):341-5. doi: 10.3928/0191-3913-19781101-03.
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Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.
2
Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome.
Arch Dis Child. 1981 Oct;56(10):814. doi: 10.1136/adc.56.10.814.
本文引用的文献
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In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood.
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Defective opsonization. A common immunity deficiency.
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Clinicopathological findings in patients with primary and secondary defects of neutrophil mobility.
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