Craniosynostosis and chromosome 22q11 deletion.
作者信息
Dean J C, De Silva D C, Reardon W
出版信息
J Med Genet. 1998 Apr;35(4):346; author reply 347. doi: 10.1136/jmg.35.4.346.
Abstract
摘要
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本文引用的文献
1
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798.
2
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
J Med Genet. 1997 Aug;34(8):632-6. doi: 10.1136/jmg.34.8.632.
3
Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity.
Clin Dysmorphol. 1995 Oct;4(4):294-303. doi: 10.1097/00019605-199510000-00004.
4
Cranial hemihypertrophy and neurodevelopmental prognosis.
J Med Genet. 1990 Mar;27(3):160-4. doi: 10.1136/jmg.27.3.160.
5
A population-based study of craniosynostosis.
J Clin Epidemiol. 1990;43(1):69-73. doi: 10.1016/0895-4356(90)90058-w.
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