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Title: A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.
Issue Date: 18-Dec-2018
Citation: Growth Horm IGF Res.2019;(44):17-19
Abstract: We report a novel GLI2 frameshift mutation and describe the phenotypic spectrum of mutations within this gene. A male with congenital hypopituitarism and polymalformation syndrome was clinically, biochemically and neuroradiologically characterized. Genetic analysis for congenital hypopituitarism was performed using a targeted NGS custom gene panel. A heterozygous frameshift mutation, NM_005270.4:c.2125del, p.(Leu709Trpfs*15), was identified in GLI2 exon 12. This mutation has not been previously reported and confirms the diagnosis of Culler-Jones syndrome (MIM #615849). GLI2 mutations should be suspected in the presence of congenital hypopitutarism, characteristic facial abnormalities and polydactyly.
PMID: 30583238
Appears in Collections:Fundaciones e Institutos de Investigación > FIB H. Infantil U. Niño Jesús > Artículos

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