Pallister-Hall syndrome

Journal of Medical Genetics

Volumn 33, Issue 7, 1996, Pages 585-589

  Biesecker, Leslie G ^a   Graham Jr , John M ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANUS ATRESIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CENTRAL NERVOUS SYSTEM DISEASE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; GENE MUTATION; HAMARTOMA; HUMAN; HYPOPITUITARISM; INHERITANCE; PATHOLOGY; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROGNOSIS; SURVIVAL;

EID: 0030035157     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.7.585     Document Type: Article

References (14)

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2. Clarren SK, Alvord EC, Hall JG. Congenital hypothalamic hamartoblastoma, nypopituitarism, imperforate anus, and postaxial polydactyly - a new syndrome? Part II. Neuro-pathological considerations. Am J Med Genet 1980;7:75-83.
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9. Low M, Moringlane JR, Reif J, et al Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of the Pallister-Hall syndrome. Clin Genet 1995:48:209-12.
10. Biesecker LG, Kang S, Abbott M, et al. Linkage studies in Pallister-Hall syndrome. Proc Greenwood Genet Center (in press).
11. Grebe TA, Clericuzio C. Autosomal dominant inheritance of a hypothalamic hamartoma associated with polysyndactyly: a case of genetic heterogeneity or variable expressivity. Am J Med Genet (in press).
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13. Neri G, Gurrieri F, Genuardi M. Oral-facial-skeletal syndromes. Am J Med Genet 1995;59:365-8.
14. Verloes A, David A, Ngô L, Bottani A. Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. J Med Genet 1995;32:605-11.