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Thrombocytopenia with absent radius in a boy and his uncle.
Am J Med Genet. 1987 Sep; 28(1):117-23.AJ

Abstract

We report a boy and his maternal uncle who have Thrombocytopenia-Absent Radius (TAR) syndrome. The mother of the propositus is normal. A maternal aunt has mild radial hypoplasia, possibly representing partial expression of the syndrome. A review of the literature shows several pedigrees in which relatives other than sibs were affected with TAR. Thus, autosomal recessive inheritance may not account for all cases and alternate modes of transmission should be considered.

Authors+Show Affiliations

Division of Human Genetics, Children's Hospital of Philadelphia, PA 19104.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

3314504

Citation

Schnur, R E., et al. "Thrombocytopenia With Absent Radius in a Boy and His Uncle." American Journal of Medical Genetics, vol. 28, no. 1, 1987, pp. 117-23.
Schnur RE, Eunpu DL, Zackai EH. Thrombocytopenia with absent radius in a boy and his uncle. Am J Med Genet. 1987;28(1):117-23.
Schnur, R. E., Eunpu, D. L., & Zackai, E. H. (1987). Thrombocytopenia with absent radius in a boy and his uncle. American Journal of Medical Genetics, 28(1), 117-23.
Schnur RE, Eunpu DL, Zackai EH. Thrombocytopenia With Absent Radius in a Boy and His Uncle. Am J Med Genet. 1987;28(1):117-23. PubMed PMID: 3314504.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Thrombocytopenia with absent radius in a boy and his uncle. AU - Schnur,R E, AU - Eunpu,D L, AU - Zackai,E H, PY - 1987/9/1/pubmed PY - 1987/9/1/medline PY - 1987/9/1/entrez SP - 117 EP - 23 JF - American journal of medical genetics JO - Am J Med Genet VL - 28 IS - 1 N2 - We report a boy and his maternal uncle who have Thrombocytopenia-Absent Radius (TAR) syndrome. The mother of the propositus is normal. A maternal aunt has mild radial hypoplasia, possibly representing partial expression of the syndrome. A review of the literature shows several pedigrees in which relatives other than sibs were affected with TAR. Thus, autosomal recessive inheritance may not account for all cases and alternate modes of transmission should be considered. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3314504/Thrombocytopenia_with_absent_radius_in_a_boy_and_his_uncle_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1987&volume=28&issue=1&spage=117 DB - PRIME DP - Unbound Medicine ER -