Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature.

• Publication year

  2017

• Venue

  Molecular Genetics & Genomic Medicine

• Publication date

  2017-05-22

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/mgg3.289PMID 28717667PMCID 5511803
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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