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Pallister-Killian mosaic syndrome with emphasis on the adult phenotype.
Am J Med Genet. 1988 Dec; 31(4):841-4.AJ

Abstract

We report on a 36-year-old man with profound mental retardation, "coarse" face, and epilepsy. Recognition of the adult phenotype of the Pallister-Killian mosaic syndrome was a prerequisite to directing the cytogenetic analysis.

Authors+Show Affiliations

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3239576

Citation

Quarrell, O W., et al. "Pallister-Killian Mosaic Syndrome With Emphasis On the Adult Phenotype." American Journal of Medical Genetics, vol. 31, no. 4, 1988, pp. 841-4.
Quarrell OW, Hamill MA, Hughes HE. Pallister-Killian mosaic syndrome with emphasis on the adult phenotype. Am J Med Genet. 1988;31(4):841-4.
Quarrell, O. W., Hamill, M. A., & Hughes, H. E. (1988). Pallister-Killian mosaic syndrome with emphasis on the adult phenotype. American Journal of Medical Genetics, 31(4), 841-4.
Quarrell OW, Hamill MA, Hughes HE. Pallister-Killian Mosaic Syndrome With Emphasis On the Adult Phenotype. Am J Med Genet. 1988;31(4):841-4. PubMed PMID: 3239576.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pallister-Killian mosaic syndrome with emphasis on the adult phenotype. AU - Quarrell,O W, AU - Hamill,M A, AU - Hughes,H E, PY - 1988/12/1/pubmed PY - 1988/12/1/medline PY - 1988/12/1/entrez SP - 841 EP - 4 JF - American journal of medical genetics JO - Am J Med Genet VL - 31 IS - 4 N2 - We report on a 36-year-old man with profound mental retardation, "coarse" face, and epilepsy. Recognition of the adult phenotype of the Pallister-Killian mosaic syndrome was a prerequisite to directing the cytogenetic analysis. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3239576/Pallister_Killian_mosaic_syndrome_with_emphasis_on_the_adult_phenotype_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=31&issue=4&spage=841 DB - PRIME DP - Unbound Medicine ER -