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Nager acrofacial dysostosis: male-to-male transmission in 2 families.
Am J Med Genet. 1991 Oct 01; 41(1):83-8.AJ

Abstract

We describe 2 unrelated families with male-to-male transmission of Nager syndrome. All 5 affected individuals have moderate expression of the phenotype. One affected boy also has Hirschsprung disease. Although Nager acrofacial dysostosis usually occurs sporadically, both recessive and dominant inheritance have been suggested on the basis of reported familial cases. The 2 families described here with father-to-son transmission strongly support the hypothesis that some cases of Nager acrofacial dysostosis occur in individuals who are heterozygous for dominantly expressed, autosomal mutations.

Authors+Show Affiliations

Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill 27599-7250.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

1951468

Citation

Aylsworth, A S., et al. "Nager Acrofacial Dysostosis: Male-to-male Transmission in 2 Families." American Journal of Medical Genetics, vol. 41, no. 1, 1991, pp. 83-8.
Aylsworth AS, Lin AE, Friedman PA. Nager acrofacial dysostosis: male-to-male transmission in 2 families. Am J Med Genet. 1991;41(1):83-8.
Aylsworth, A. S., Lin, A. E., & Friedman, P. A. (1991). Nager acrofacial dysostosis: male-to-male transmission in 2 families. American Journal of Medical Genetics, 41(1), 83-8.
Aylsworth AS, Lin AE, Friedman PA. Nager Acrofacial Dysostosis: Male-to-male Transmission in 2 Families. Am J Med Genet. 1991 Oct 1;41(1):83-8. PubMed PMID: 1951468.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nager acrofacial dysostosis: male-to-male transmission in 2 families. AU - Aylsworth,A S, AU - Lin,A E, AU - Friedman,P A, PY - 1991/10/1/pubmed PY - 1991/10/1/medline PY - 1991/10/1/entrez SP - 83 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 41 IS - 1 N2 - We describe 2 unrelated families with male-to-male transmission of Nager syndrome. All 5 affected individuals have moderate expression of the phenotype. One affected boy also has Hirschsprung disease. Although Nager acrofacial dysostosis usually occurs sporadically, both recessive and dominant inheritance have been suggested on the basis of reported familial cases. The 2 families described here with father-to-son transmission strongly support the hypothesis that some cases of Nager acrofacial dysostosis occur in individuals who are heterozygous for dominantly expressed, autosomal mutations. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1951468/Nager_acrofacial_dysostosis:_male_to_male_transmission_in_2_families_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=41&issue=1&spage=83 DB - PRIME DP - Unbound Medicine ER -