Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome
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DOI: 10.1002/jcla.23407
Abstract: Silver‐Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by… read more here.
Keywords: pendred syndrome; russell syndrome; silver russell; upd chromosome ... See more keywords