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Article

From VACTERL‐H to heterotaxy: Variable expressivity of ZIC3—related disorders

4 Apr 2011

Abstract excerpt

The ZIC3 gene encodes a zinc finger protein which functions as a transcription factor in early stages of left-right body axis formation. Mutations in this X-linked gene cause a variety of clinical manifestations including heterotaxy, complex or isolated heart defect as well as other midline urogenital and hindgut malformations. We report a four generation family with X-linked heterotaxy associated with a deletion...

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PMID: 21465648
DOI: 10.1002/ajmg.a.33859

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