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Pallister-Hall syndrome associated with an unbalanced chromosome translocation

✍ Scribed by Kuller, Jeffrey A. ;Cox, Victoria A. ;Schonberg, Steven A. ;Golabi, Mahin

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
303 KB
Volume
43
Category
Article
ISSN
0148-7299

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✦ Synopsis

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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