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Familial variable immunodeficiency: Autosomal dominant pattern of inheritance with variable expression of the defect(s)

โœ Scribed by Geraldine Feldman; Benjamin Koziner; Richard Talamo; Kurt J. Bloch


Book ID
118538833
Publisher
Elsevier Science
Year
1975
Tongue
English
Weight
518 KB
Volume
87
Category
Article
ISSN
1097-6833

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โœ Grebe, Theresa A. ;Clericuzio, Carol ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 943 KB

We report on a two-generation family exhibiting dominant inheritance of complex polysyndactyly associated with hypothalamic hamartoma. These individuals have some manifestations of Pallister-Hall syndrome (PHS), but their phenotype is milder. The proposita is a 16-year-old girl with polysyndactyly o