Tags

Type your tag names separated by a space and hit enter

New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome.
Am J Med Genet 1986; 25(3):507-11AJ

Abstract

We report on two sibs (a boy and a girl) with the Freeman-Sheldon (FS) syndrome (also called cranio-carpo-tarsal "dysplasia" or whistling face syndrome), born to normal parents. This unusual finding may represent genetic heterogeneity, germinal mutation of an autosomal dominant gene, and an epistatic recessive gene that suppressed the expression of the abnormal gene in the father, his parents being first cousins. The last 2 mechanisms seem less probable.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

3789012

Citation

Sánchez, J M., and C P. Kaminker. "New Evidence for Genetic Heterogeneity of the Freeman-Sheldon Syndrome." American Journal of Medical Genetics, vol. 25, no. 3, 1986, pp. 507-11.
Sánchez JM, Kaminker CP. New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome. Am J Med Genet. 1986;25(3):507-11.
Sánchez, J. M., & Kaminker, C. P. (1986). New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome. American Journal of Medical Genetics, 25(3), pp. 507-11.
Sánchez JM, Kaminker CP. New Evidence for Genetic Heterogeneity of the Freeman-Sheldon Syndrome. Am J Med Genet. 1986;25(3):507-11. PubMed PMID: 3789012.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New evidence for genetic heterogeneity of the Freeman-Sheldon syndrome. AU - Sánchez,J M, AU - Kaminker,C P, PY - 1986/11/1/pubmed PY - 1986/11/1/medline PY - 1986/11/1/entrez SP - 507 EP - 11 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 25 IS - 3 N2 - We report on two sibs (a boy and a girl) with the Freeman-Sheldon (FS) syndrome (also called cranio-carpo-tarsal "dysplasia" or whistling face syndrome), born to normal parents. This unusual finding may represent genetic heterogeneity, germinal mutation of an autosomal dominant gene, and an epistatic recessive gene that suppressed the expression of the abnormal gene in the father, his parents being first cousins. The last 2 mechanisms seem less probable. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3789012/New_evidence_for_genetic_heterogeneity_of_the_Freeman_Sheldon_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1986&volume=25&issue=3&spage=507 DB - PRIME DP - Unbound Medicine ER -