OR24-1 Structure-Function Analysis of Human OTX2 Variants Defines Required Region of C-Terminus for Pituitary, Eye, and Craniofacial Development

OTX2 is a homeobox transcription factor important for eye, craniofacial and midline development. Whole gene deletions and heterozygous mutations in OTX2 cause variable anomalies with incomplete penetrance, and most cases present with craniofacial / ocular abnormalities, and hypopituitarism, includin...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:J Endocr Soc
Hauptverfasser: Bando, Hironori, Carvalho, Luciani, Bohnsack, Brenda, Moreira, Michele, Antonellis, Anthony, Arnhold, Ivo, Camper, Sally, Gergics, Peter
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2019
Schlagworte:
Neuroendocrinology and Pituitary
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6554913/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR24-1
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge