Article
14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.
American journal of medical genetics. Part A - 1 Jul 2016
Gentile Mattia, De Mattia Delia, Pansini Angela, Schettini Federico, Buonadonna Antonia Lucia, Capozza Manuela, Ficarella Romina, Laforgia Nicola
Abstract excerpt
Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phenotype is heterogeneous, depending on the size, and, mostly, on the deleted region. We report the clinical and molecular characterization of a female newborn, whose phenotype was characterized by poor growth, dysmorphic facial features, subclinical hypothyroidism, and mild reduction of CD3CD8 Lymphocytes with...
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