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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Bibliografske podrobnosti
izdano v:J Med Case Rep
Main Authors: Bogs, Thomas, Kipfmüller, Florian, Kohlschmidt, Nicolai, Gembruch, Ulrich, Müller, Andreas, Reutter, Heiko
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Case Report
Online dostop: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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