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Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene.
Am J Med Genet. 1990 Jan; 35(1):100-4.AJ

Abstract

Segregation and linkage analysis was performed on published data on 5 families segregating for Waardenburg syndrome (WS) and Hirschsprung disease (HRSD). Two of these families demonstrated parental consanguinity. On the basis of these families, autosomal recessive inheritance of the combination WS-HRSD has been postulated. However, a single dominant gene with pleiotropic effects leading to WS and HRSD, with a more severe phenotype in homozygotes, is more plausible. A model of gene action incorporating stochastic effects is compatible with these observations.

Authors+Show Affiliations

Division of Human Genetics, Graduate School of Public Health, University of Pittsburgh.No affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

2301458

Citation

Badner, J A., and A Chakravarti. "Waardenburg Syndrome and Hirschsprung Disease: Evidence for Pleiotropic Effects of a Single Dominant Gene." American Journal of Medical Genetics, vol. 35, no. 1, 1990, pp. 100-4.
Badner JA, Chakravarti A. Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. Am J Med Genet. 1990;35(1):100-4.
Badner, J. A., & Chakravarti, A. (1990). Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. American Journal of Medical Genetics, 35(1), 100-4.
Badner JA, Chakravarti A. Waardenburg Syndrome and Hirschsprung Disease: Evidence for Pleiotropic Effects of a Single Dominant Gene. Am J Med Genet. 1990;35(1):100-4. PubMed PMID: 2301458.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. AU - Badner,J A, AU - Chakravarti,A, PY - 1990/1/1/pubmed PY - 1990/1/1/medline PY - 1990/1/1/entrez SP - 100 EP - 4 JF - American journal of medical genetics JO - Am J Med Genet VL - 35 IS - 1 N2 - Segregation and linkage analysis was performed on published data on 5 families segregating for Waardenburg syndrome (WS) and Hirschsprung disease (HRSD). Two of these families demonstrated parental consanguinity. On the basis of these families, autosomal recessive inheritance of the combination WS-HRSD has been postulated. However, a single dominant gene with pleiotropic effects leading to WS and HRSD, with a more severe phenotype in homozygotes, is more plausible. A model of gene action incorporating stochastic effects is compatible with these observations. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2301458/Waardenburg_syndrome_and_Hirschsprung_disease:_evidence_for_pleiotropic_effects_of_a_single_dominant_gene_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=35&issue=1&spage=100 DB - PRIME DP - Unbound Medicine ER -