Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Left-right axis malformations

Left-right axis malformations are associated with mutations of the LEFTY2 gene.

Systematic

Ciliopathy
Acrocallosal syndrome
COACH syndrome
Cranioectodermal dysplasia
Joubert syndrome
Leber congenital amaurosis
Left-right axis malformations
LEFTY2
Meckel syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis
Nephronophthisis
Orofaciodigital syndrome
Primary ciliary dyskinesia 3 with or without situs inversus
Retinitis pigmentosa
Senior-Loken syndrome
Short-rib thoracic dysplasia with or without polydactyly
Simpson-Golabi-Behmel syndrome

References:

1.

Meno C et al. (1996) Left-right asymmetric expression of the TGF beta-family member lefty in mouse embryos.

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2.

Kothapalli R et al. (1997) Detection of ebaf, a novel human gene of the transforming growth factor beta superfamily association of gene expression with endometrial bleeding.

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3.

Meno C et al. (1997) Two closely-related left-right asymmetrically expressed genes, lefty-1 and lefty-2: their distinct expression domains, chromosomal linkage and direct neuralizing activity in Xenopus embryos.

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4.

Kosaki K et al. (1999) Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

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5.

Meno C et al. (1999) Mouse Lefty2 and zebrafish antivin are feedback inhibitors of nodal signaling during vertebrate gastrulation.

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6.

Burdine RD et al. (2000) Conserved and divergent mechanisms in left-right axis formation.

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7.

Tabibzadeh S et al. (2000) Dysregulated expression of ebaf, a novel molecular defect in the endometria of patients with infertility.

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8.

Meno C et al. (2001) Diffusion of nodal signaling activity in the absence of the feedback inhibitor Lefty2.

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9.

OMIM.ORG article

Omim 601877 [^]
Update: April 29, 2019