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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… Click to show full 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 sensorineural hearing loss.
Keywords:
pendred syndrome;
russell syndrome;
silver russell;
upd chromosome;
chromosome patient;
maternal upd
Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2020
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Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2020
Link to full text (if available)
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recommendations!