Literature DB >> 1605268

Pallister-Hall syndrome associated with an unbalanced chromosome translocation.

J A Kuller1, V A Cox, S A Schonberg, M Golabi.   

Abstract

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.

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Year:  1992        PMID： 1605268     DOI： 10.1002/ajmg.1320430336

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  Pallister-Hall syndrome.

Authors:  L G Biesecker; J M Graham
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.

Authors:  L G Biesecker; S Kang; A A Schäffer; M Abbott; R I Kelley; J C Allen; C Clericuzio; T Grebe; A Olney; J M Graham
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

3.  Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Authors:  A Verloes; A David; L Ngô; A Bottani
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

4.  7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.

Authors:  Vassilis Paspaliaris; Nikolaos Vrachnis; Zoe Iliodromiti; Nikolaos Antonakopoulos; Giorgos Papaioannou; Nikolaos Vlachadis; Foteini Anastasiadou; Sotirios Sotiriou; Antonios Garas; Lorreta Thomaidis; Emmanouil Manolakos
Journal:  Mol Syndromol       Date:  2017-11-24
  4 in total

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