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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Detalles Bibliográficos
Autores principales: Papoulidis, Ioannis, Vetro, Annalisa, Paspaliaris, Vassilis, Ziegler, Monika, Kreskowski, Katharina, Daskalakis, George, Papadopoulos, Vasilios, Dagklis, Themistoklis, Liehr, Thomas, Thomaidis, Loretta, Manolakos, Emmanouil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5850512/
https://www.ncbi.nlm.nih.gov/pubmed/29606911
http://dx.doi.org/10.2174/1389202918666170725102220

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