Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report

BACKGROUND: Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). CASE PRESENTATION: We describe the first as...

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Detaylı Bibliyografya
Yayımlandı:J Med Case Rep
Asıl Yazarlar: Bogs, Thomas, Kipfmüller, Florian, Kohlschmidt, Nicolai, Gembruch, Ulrich, Müller, Andreas, Reutter, Heiko
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4818464/
https://ncbi.nlm.nih.gov/pubmed/27036947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-016-0855-1
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