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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Bentham Science Publishers 2018
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Article
Acesso em linha: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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