Abstract:
:Seven patients with congenital cutis laxa are presented. The associated features include developmental delay, joint laxity, wide anterior fontanelle, growth retardation, dental caries, and osteopenia. The heterogeneity and inheritance of congenital cutis laxa are discussed. This particular syndrome appears distinct and is likely to be autosomal recessive in view of the two brother-sister sib pairs in this report.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Patton MA,Tolmie J,Ruthnum P,Bamforth S,Baraitser M,Pembrey Mdoi
10.1136/jmg.24.9.556subject
Has Abstractpub_date
1987-09-01 00:00:00pages
556-61issue
9eissn
0022-2593issn
1468-6244journal_volume
24pub_type
杂志文章abstract::Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease...
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更新日期:2015-02-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2005.040212
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pub_type: 杂志文章
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更新日期:1990-11-01 00:00:00
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更新日期:1993-08-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.6.375
更新日期:1987-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:1992-06-01 00:00:00
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pub_type: 杂志文章
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journal_title:Journal of medical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Journal of medical genetics
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