Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men

CONTEXT: The transcription factor RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, and an abnormal hypothalamus and display perinatal lethality. In humans, homozygous or compound he...

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Dades bibliogràfiques
Publicat a:J Clin Endocrinol Metab
Autors principals: Brachet, Cécile, Kozhemyakina, Elena A, Boros, Emese, Heinrichs, Claudine, Balikova, Irina, Soblet, Julie, Smits, Guillaume, Vilain, Catheline, Mathers, Peter H
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2019
Matèries:
Clinical Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6543774/
https://ncbi.nlm.nih.gov/pubmed/30811539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-02316
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