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Pallister-Hall syndrome associated with an unbalanced chromosome translocation.

Publication ,  Journal Article
Kuller, JA; Cox, VA; Schonberg, SA; Golabi, M
Published in: Am J Med Genet
June 1, 1992

We report 3 cases of Pallister-Hall syndrome involving hypothalamic hamartoblastoma, hypopituitarism, cranial, and limb abnormalities. The first 2 cases represent the first apparent sibs reported with this syndrome. Patient 1 represents the first known patient with this syndrome with an abnormal karyotype.

Duke Scholars

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

June 1, 1992

Volume

43

Issue

3

Start / End Page

647 / 650

Location

United States

Related Subject Headings

  • Translocation, Genetic
  • Syndrome
  • Male
  • Infant, Newborn
  • Hypothalamic Neoplasms
  • Hypopituitarism
  • Humans
  • Hamartoma
  • Face
  • Chromosomes, Human, Pair 7
 

Citation

APA
Chicago
ICMJE
MLA
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Kuller, J. A., Cox, V. A., Schonberg, S. A., & Golabi, M. (1992). Pallister-Hall syndrome associated with an unbalanced chromosome translocation. Am J Med Genet, 43(3), 647–650. https://doi.org/10.1002/ajmg.1320430336
Kuller, J. A., V. A. Cox, S. A. Schonberg, and M. Golabi. “Pallister-Hall syndrome associated with an unbalanced chromosome translocation.Am J Med Genet 43, no. 3 (June 1, 1992): 647–50. https://doi.org/10.1002/ajmg.1320430336.
Kuller JA, Cox VA, Schonberg SA, Golabi M. Pallister-Hall syndrome associated with an unbalanced chromosome translocation. Am J Med Genet. 1992 Jun 1;43(3):647–50.
Kuller, J. A., et al. “Pallister-Hall syndrome associated with an unbalanced chromosome translocation.Am J Med Genet, vol. 43, no. 3, June 1992, pp. 647–50. Pubmed, doi:10.1002/ajmg.1320430336.
Kuller JA, Cox VA, Schonberg SA, Golabi M. Pallister-Hall syndrome associated with an unbalanced chromosome translocation. Am J Med Genet. 1992 Jun 1;43(3):647–650.

Published In

Am J Med Genet

DOI

ISSN

0148-7299

Publication Date

June 1, 1992

Volume

43

Issue

3

Start / End Page

647 / 650

Location

United States

Related Subject Headings

  • Translocation, Genetic
  • Syndrome
  • Male
  • Infant, Newborn
  • Hypothalamic Neoplasms
  • Hypopituitarism
  • Humans
  • Hamartoma
  • Face
  • Chromosomes, Human, Pair 7