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Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease.
Am J Med Genet. 1993 May 15; 46(3):341-4.AJ

Abstract

We report on a girl with Tel Hashomer camptodactyly syndrome (THCS) born to first-cousin parents. In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome. The present description expands the phenotypic spectrum of the syndrome and gives new support to the hypothesized pleiotropic effects of the THCS gene on connective tissue.

Authors+Show Affiliations

Istituto di Discipline Pediatriche, Università di Torino, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8488882

Citation

Franceschini, P, et al. "Inguinal Hernia and Atrial Septal Defect in Tel Hashomer Camptodactyly Syndrome: Report of a New Case Expanding the Phenotypic Spectrum of the Disease." American Journal of Medical Genetics, vol. 46, no. 3, 1993, pp. 341-4.
Franceschini P, Vardeu MP, Signorile F, et al. Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease. Am J Med Genet. 1993;46(3):341-4.
Franceschini, P., Vardeu, M. P., Signorile, F., Testa, A., Guala, A., Franceschini, D., & Dalforno, L. (1993). Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease. American Journal of Medical Genetics, 46(3), 341-4.
Franceschini P, et al. Inguinal Hernia and Atrial Septal Defect in Tel Hashomer Camptodactyly Syndrome: Report of a New Case Expanding the Phenotypic Spectrum of the Disease. Am J Med Genet. 1993 May 15;46(3):341-4. PubMed PMID: 8488882.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Inguinal hernia and atrial septal defect in Tel Hashomer camptodactyly syndrome: report of a new case expanding the phenotypic spectrum of the disease. AU - Franceschini,P, AU - Vardeu,M P, AU - Signorile,F, AU - Testa,A, AU - Guala,A, AU - Franceschini,D, AU - Dalforno,L, PY - 1993/5/15/pubmed PY - 1993/5/15/medline PY - 1993/5/15/entrez SP - 341 EP - 4 JF - American journal of medical genetics JO - Am J Med Genet VL - 46 IS - 3 N2 - We report on a girl with Tel Hashomer camptodactyly syndrome (THCS) born to first-cousin parents. In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome. The present description expands the phenotypic spectrum of the syndrome and gives new support to the hypothesized pleiotropic effects of the THCS gene on connective tissue. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/8488882/Inguinal_hernia_and_atrial_septal_defect_in_Tel_Hashomer_camptodactyly_syndrome:_report_of_a_new_case_expanding_the_phenotypic_spectrum_of_the_disease_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=46&issue=3&spage=341 DB - PRIME DP - Unbound Medicine ER -