Abstract:
:Poland anomaly and facio-auriculo-vertebral dysplasia are considered to be separate entities. We describe a 3-year-old boy with features of both Poland anomaly and facio-auriculo-vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications are discussed.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Cobben JM,van Essen AJ,McParland PC,Polman HA,ten Kate LPdoi
10.1111/j.1399-0004.1992.tb03643.xsubject
Has Abstractpub_date
1992-02-01 00:00:00pages
105-7issue
2eissn
0009-9163issn
1399-0004journal_volume
41pub_type
杂志文章abstract::Glucose-galactose malabsorption (GGM) is an autosomal recessive disease with life-threatening newborn diarrhea caused by mutations in the Na(+) /glucose cotransporter gene SLC5A1. Because of its rarity, the clinical course of the disease has not been well studied. Here, we report 33 patients with GGM from a large Old ...
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:2017-08-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb00517.x
更新日期:1986-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb00235.x
更新日期:1985-05-01 00:00:00
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更新日期:1982-07-01 00:00:00
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journal_title:Clinical genetics
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更新日期:2011-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1995-10-01 00:00:00
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doi:
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更新日期:1993-12-01 00:00:00
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更新日期:2015-04-01 00:00:00
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更新日期:2005-10-01 00:00:00