What does this research mean for the field?

A 1.9 Mb critical deletion region at 1q24.3q25.1 is responsible for a clinically recognizable microdeletion syndrome characterized by microcephaly, proportionate growth deficiency, and severe cognitive disability, with CENPL and DNM3 identified as candidate genes for these specific features. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

May 5, 2011American Journal of Medical Genetics Part A

Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25

View Full Paper

Ask AI

Bookmark

Authors

DBDeepika Burkardt JRJill A. Rosenfeld MHMaria Helgeson

Discussion

Member takes

Overview

Key Points

Key points are not available for this paper at this time.

Cite This Study

Burkardt et al. (2011) studied this question.

synapsesocial.com/papers/6a07f3d6eced9cc596fe088e https://doi.org/10.1002/ajmg.a.34049

View Full Paper

Ask AI

Bookmark

May 5, 2011American Journal of Medical Genetics Part A

Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25

View Full Paper

Ask AI

Bookmark

Authors

DBDeepika Burkardt JRJill A. Rosenfeld MHMaria Helgeson

Discussion

Member takes

Overview

Key Points

Key points are not available for this paper at this time.

Cite This Study

Burkardt et al. (2011) studied this question.

synapsesocial.com/papers/6a07f3d6eced9cc596fe088e https://doi.org/10.1002/ajmg.a.34049

Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

View Full Paper

Ask AI

Bookmark