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• W2147804736 abstract "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 mutation in the conserved CFC domain of TDGF1 in a patient with midline anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development." @default.
• W2147804736 created "2016-06-24" @default.
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• W2147804736 date "2002-04-10" @default.
• W2147804736 modified "2023-10-02" @default.
• W2147804736 title "A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects" @default.
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• W2147804736 doi "https://doi.org/10.1007/s00439-002-0709-3" @default.
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