Article
Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
Clinical endocrinology - 1 Apr 2015
Paulo Sabrina Soares, Fernandes-Rosa Fábio L, Turatti Wendy, Coeli-Lacchini Fernanda Borchers, Martinelli Carlos E, Nakiri Guilherme S, Moreira Ayrton C, Santos Antônio C, de Castro Margaret, Antonini Sonir R
Abstract excerpt
CONTEXT AND OBJECTIVE: Sonic Hedgehog (SHH) and GLI2, an obligatory mediator of SHH signal transduction, are holoprosencephaly (HPE)-associated genes essential in pituitary formation. GLI2 variants have been found in patients with congenital hypopituitarism without complex midline cerebral defects (MCD). However, data on the occurrence of SHH mutations in these patients are limited. We screened for SHH and GLI2...
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