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3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.

Subit BaruaElaine M PereiraVaidehi JobanputraKwame Anyane-YeboaBrynn LevyJun Liao
Published in: Molecular cytogenetics (2022)
This study provides further evidence supporting the existence of a novel 3q27.1 microdeletion syndrome and suggests that haploinsufficiency of potential candidate genes, DVL3, AP2M1, and PARL in the SRO in 3q27.1 is responsible for the phenotype.
Keyphrases
  • pregnant women
  • transcription factor
  • case report
  • human health