Pallister-Hall syndrome

Definition:

Pallister-Hall syndrome (PHS) is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. PHS is caused by GLI3 mutations.

References:

[1]. Jennifer J Johnston, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005 Apr;76(4):609-22. [Content Brief]

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