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Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
BACKGROUND: Since the establishment of chromosomal microarrays in clinical practice, many new microdeletion/microduplication syndromes have been identified, including 18q11.2 microdeletion. Chromosome 18q deletion syndrome is commonly classified into distal deletion and a much rarer proximal interst...
Autores principales: | Rojnueangnit, Kitiwan, Charalsawadi, Chariyawan, Thammachote, Weerin, Pradabmuksiri, Ariya, Tim‐Aroon, Thipwimol, Novelli, Antonio, Loddo, Sara, Briuglia, Silvana, Concetta, Cutrupi M., Wattanasirichaigoon, Duangrurdee, Jinawath, Natini |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732287/ https://www.ncbi.nlm.nih.gov/pubmed/31390163 http://dx.doi.org/10.1002/mgg3.896 |
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