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A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, and subte...

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Autors principals: Zada, Almira, Mundhofir, Farmaditya E. P., Pfundt, Rolph, Leijsten, Nico, Nillesen, Willy, Faradz, Sultana M. H., de Leeuw, Nicole
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3985205/
https://ncbi.nlm.nih.gov/pubmed/24800088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/530134
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