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A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1

CONTEXT: Genetic defects affecting the expression and function of factors involved in pituitary development have been found to be associated with congenital hypopituitarism (CH). However, for most cases of CH, the etiology remains unknown. CASE DESCRIPTION: We present an unusual case of an infant wi...

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Detalles Bibliográficos
Autores principales: Thakur, Mili, Taha, Doris, Misra, Vinod K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686627/
https://www.ncbi.nlm.nih.gov/pubmed/29264484
http://dx.doi.org/10.1210/js.2016-1072