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Complex brain malformations associated with chromosome 6q27 gain that includes THBS2, which encodes thrombospondin 2, an astrocyte-derived protein of the extracellular matrix

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Oct 9, 2014

Melissa N BurnsideChristopher R Pierson

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Abstract

This case describes the autopsy findings of a 2-month-old male infant with extensive and severe developmental brain abnormalities, including microcephaly, neocortical neuronal layering abnormalities, leptomeningeal heterotopias, commissural agenesis, and cerebellar and brainstem hypopla...read more

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Cell Secretion
Anatomical Layer
Microcephaly
6q27
Agenesis
Leptomeninges
Open Reading Frames
Structural protein
Brainstem Hypoplasia/Dysplasia
Chromosome Band
Paper Details
References
  • References17
  • Citations1
12

Complex brain malformations associated with chromosome 6q27 gain that includes THBS2, which encodes thrombospondin 2, an astrocyte-derived protein of the extracellular matrix

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Oct 9, 2014

Melissa N BurnsideChristopher R Pierson

PMID: 25299246

DOI: 10.2350/14-06-1516-cr.1

Abstract

This case describes the autopsy findings of a 2-month-old male infant with extensive and severe developmental brain abnormalities, including microcephaly, neocortical neuronal layering abnormalities, leptomeningeal heterotopias, commissural agenesis, and cerebellar and brainstem hypopla...read more

Mentioned in this Paper

Cell Secretion
Anatomical Layer
Microcephaly
6q27
Agenesis

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Paper Details
References
  • References17
  • Citations1
12

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