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Article

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly.

American journal of medical genetics. Part A - 1 Jun 2011

Campbell Ian M, Kolodziejska Katarzyna E, Quach Michael M, Wolf Varina Louise, Cheung Sau Wai, Lalani Seema R, Ramocki Melissa B, Stankiewicz Pawel

Abstract excerpt

To date, over 70 mutations in the TGFBR2 gene have been reported in patients with Loeys-Dietz syndrome (LDS), Marfan syndrome type 2 (MFS2), or other hereditary thoracic aortic aneurysms and dissections. Whereas almost all of mutations analyzed thus far are predicted to disrupt the constitutively active C-terminal serine/threonine kinase domain of TGFBR2, mounting evidence suggests that the molecular mechanism...

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Source

Open in PubMed Open full text

Identifiers

PMID: 21567932
DOI: 10.1002/ajmg.a.34015
PMCID: PMC3646644

Genes

TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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