Article
Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency.
Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008
Guerra-Junior Gil, Spinola-Castro Angela Maria, Siviero-Miachon Adriana A, Nogueira Roberto Gomes, Lemos-Marini Sofia Helena V, D'Souza-Li Lilia Freire Rodrigues, Silva Priscila Cristina da, França Emerson Salvador S, Soardi Fernanda Caroline, Mello Maricilda Palandi de
Abstract excerpt
Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.