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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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Bibliografische gegevens
Hoofdauteurs: Zada, Almira, Mundhofir, Farmaditya E. P., Pfundt, Rolph, Leijsten, Nico, Nillesen, Willy, Faradz, Sultana M. H., de Leeuw, Nicole
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Hindawi Publishing Corporation 2014
Onderwerpen:
Online toegang: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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