par Brachet, Cécile 
;Kozhemyakina, E;Boros, EMESE ;Heinrichs, Claudine ;Balikova, Irina ;Soblet, Julie ;Smits, Guillaume ;Vilain, Catheline ;Mathers, P H
Référence The Journal of clinical endocrinology and metabolism
Publication Publié, 2019-02-01
;Kozhemyakina, E;Boros, EMESE ;Heinrichs, Claudine ;Balikova, Irina ;Soblet, Julie ;Smits, Guillaume ;Vilain, Catheline ;Mathers, P HRéférence The Journal of clinical endocrinology and metabolism
Publication Publié, 2019-02-01
Article révisé par les pairs
| Résumé : | 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, abnormal hypothalamus, and display perinatal lethality. In humans, homozygous or compound heterozygous RAX mutations are reported to cause bilateral micro/anophthalmia without consistent associated features.Congenital Hypopituitarism can be associated with various eye or craniofacial anomalies but the co-occurrence of Congenital Hypopituitarism, anophthalmia, cleft palate and diabetes insipidus is very rare. |
