Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

BACKGROUND: Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relat...

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Hlavní autoři: Al-Zahrani, Jawaher, Al-Dosari, Naji, AbuDheim, Nada, Alshidi, Tarfa A, Colak, Dilek, Al-Habit, Ola, Al-Odaib, Ali, Sakati, Nadia, Meyer, Brian, Ozand, Pinar T, Kaya, Namik
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2011
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3083380/
https://ncbi.nlm.nih.gov/pubmed/21457577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-4-9
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