A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization

BACKGROUND: Short arm deletions of the X-chromosome are challenging issues for genetic counseling due to their low penetrance in population. Female carriers of these deletions have milder phenotype than male ones, considering the intellectual ability and social skills, probably because of the X-chro...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Curr Genomics
Main Authors: Papoulidis, Ioannis, Vetro, Annalisa, Paspaliaris, Vassilis, Ziegler, Monika, Kreskowski, Katharina, Daskalakis, George, Papadopoulos, Vasilios, Dagklis, Themistoklis, Liehr, Thomas, Thomaidis, Loretta, Manolakos, Emmanouil
פורמט: Artigo
שפה:Inglês
יצא לאור: Bentham Science Publishers 2018
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC5850512/
https://ncbi.nlm.nih.gov/pubmed/29606911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2174/1389202918666170725102220
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