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Article

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.

Human genetics - 1 May 2002

de la Cruz June M, Bamford Richard N, Burdine Rebecca D, Roessler Erich, Barkovich A James, Donnai Dian, Schier Alexander F, Muenke Maximilian

Abstract excerpt

TDGF1 (CRIPTO) is an EGF-CFC family member and an obligate co-receptor involved in NODAL signaling, a developmental program implicated in midline, forebrain, and left-right axis development in model organisms. Previous studies of CFC1 (CRYPTIC), another member of the EGF-CFC family, demonstrated that normal function of this protein is required for proper laterality development in humans. Here we identify a...

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Source

Identifiers

PMID: 12073012
DOI: 10.1007/s00439-002-0709-3

Genes

EGF
CFC1
CRIPTO
NODAL

Provenance

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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