X-linked panhypopituitarism
Definition:
References:
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[1]. Anne M Jelsig, et al. A complex phenotype in a family with a pathogenic SOX3 missense variant. Eur J Med Genet. 2018 Mar;61(3):168-172. [Content Brief]
[2]. F A Hol, et al. Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics. 2000 Oct 15;69(2):174-81. [Content Brief]
[3]. Kathryn S Woods, et al. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet. 2005 May;76(5):833-49. [Content Brief]