Trio-based whole exome sequencing in patients with ectopic posterior pituitary

• DOI: 10.3389/fped.2024.1334610
• Publication Date: 2024-08-02T04:58:29Z
• Authors: Arthur Lyra; Itatiana Ferreira...; Lara Barros; Tatiane Sousa e S...; Antônio José da R...; Cristiane Kochi; Carlos Alberto Lo...
• Keywords: GLI2; Penetrance; Candidate gene; Pituitary stalk

Ectopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as stalk interruption syndrome (PSIS), in which thin or absent and anterior hypoplasia are combined to EPP. Most cases sporadic, few reports of familial cases, many hypopituitarism (CH) remain unsolved.