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Article

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

American journal of medical genetics. Part A - 1 Sept 2021

Pirozzi Filomena, Lee Benson, Horsley Nicole, Burkardt Deepika D, Dobyns William B, Graham John M, Dentici Maria L, Cesario Claudia, Schallner Jens, Porrmann Joseph, Di Donato Nataliya, Sanchez-Lara Pedro A, Mirzaa Ghayda M

Abstract excerpt

Cyclin D2 (CCND2) is a critical cell cycle regulator and key member of the cyclin D2-CDK4 (DC) complex. De novo variants of CCND2 clustering in the distal part of the protein have been identified as pathogenic causes of brain overgrowth (megalencephaly, MEG) and severe cortical malformations in children including the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome....

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Identifiers

PMID: 34087052
DOI: 10.1002/ajmg.a.62362
PMCID: PMC8725575

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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