Regular ArticleGenetics of human left–right axis malformations
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Morphogenic fields: A coming of age
2022, ExploreHuman Laterality Disorders: Pathogenesis, Clinical Manifestations, Diagnosis, and Management
2021, American Journal of the Medical SciencesCitation Excerpt :However, in humans the same gene mutation has been associated with different heterotaxy phenotypes. Human genotyping has failed to establish a clear and consistent genotype-to-phenotype link and familial pedigree analysis has shown identical gene mutations in affected and unaffected individuals.2,3,22–33 This does not exclude a genetic basis for human laterality disorders, but rather suggests the presence of an incomplete data base and the need for further research into the genetic basis for these diseases.
Ampullectomy for an unexpected ampullary hamartoma in a heterotaxic patient
2013, International Journal of Surgery Case ReportsCitation Excerpt :Heterotaxy designates rare congenital disorders of organ positioning in the thoracic and abdominal cavities.1,2 More precisely, situs inversus totalis defines the full transposition of organs in a mirror image, while situs ambiguus includes any defect of lateralization along the cephalo-caudal axis.1 Numerous other anomalies may be associated with heterotaxy, in particular concerning the digestive tract, complicating the surgical management because of the loss of conventional anatomic landmarks.
Genetic basis of human left-right asymmetry disorders
2014, Expert Reviews in Molecular Medicine