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Two siblings with Tel Hashomer camptodactyly and mitral valve prolapse.
Am J Med Genet. 1990 Aug; 36(4):398-403.AJ

Abstract

A brother and sister with Tel Hashomer camptodactyly and mitral valve prolapse are described. Mitral valve prolapse is heterogenous, but appears to occur more frequently in individuals with connective tissue disorders. The presence of mitral valve prolapse as a component manifestation of Tel Hashomer camptodactyly suggests that abnormal connective tissue is a pleiotropic effect of the mutant allele.

Authors+Show Affiliations

Blodgett Memorial Medical Center, Butterworth Hospital, Grand Rapids, MI.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

2202212

Citation

Toriello, H V., et al. "Two Siblings With Tel Hashomer Camptodactyly and Mitral Valve Prolapse." American Journal of Medical Genetics, vol. 36, no. 4, 1990, pp. 398-403.
Toriello HV, Higgins JV, Malvitz T, et al. Two siblings with Tel Hashomer camptodactyly and mitral valve prolapse. Am J Med Genet. 1990;36(4):398-403.
Toriello, H. V., Higgins, J. V., Malvitz, T., & Waterman, D. F. (1990). Two siblings with Tel Hashomer camptodactyly and mitral valve prolapse. American Journal of Medical Genetics, 36(4), 398-403.
Toriello HV, et al. Two Siblings With Tel Hashomer Camptodactyly and Mitral Valve Prolapse. Am J Med Genet. 1990;36(4):398-403. PubMed PMID: 2202212.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two siblings with Tel Hashomer camptodactyly and mitral valve prolapse. AU - Toriello,H V, AU - Higgins,J V, AU - Malvitz,T, AU - Waterman,D F, PY - 1990/8/1/pubmed PY - 1990/8/1/medline PY - 1990/8/1/entrez SP - 398 EP - 403 JF - American journal of medical genetics JO - Am J Med Genet VL - 36 IS - 4 N2 - A brother and sister with Tel Hashomer camptodactyly and mitral valve prolapse are described. Mitral valve prolapse is heterogenous, but appears to occur more frequently in individuals with connective tissue disorders. The presence of mitral valve prolapse as a component manifestation of Tel Hashomer camptodactyly suggests that abnormal connective tissue is a pleiotropic effect of the mutant allele. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/2202212/Two_siblings_with_Tel_Hashomer_camptodactyly_and_mitral_valve_prolapse_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1990&volume=36&issue=4&spage=398 DB - PRIME DP - Unbound Medicine ER -