14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
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DOI: 10.1002/mgg3.1289
Abstract: Chromosome 14q11‐q22 deletion syndrome (OMIM 613457) is a rare contiguous gene syndrome. Two regions of overlap (RO) of the 14q12q21.1 deletion have been identified: a proximal region (RO1), including FOXG1(*164874), NKX2‐1(*600635), and PAX9(*167416) and a… read more here.
Keywords: clinical characterization; microdeletion syndrome; region; characterization new ... See more keywords