Article
Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
Pituitary - 1 Apr 2021
Elizabeth Melitza S M, Verkerk Annemieke J M H, Hokken-Koelega Anita C S, Verlouw Joost A M, Argente Jesús, Pfaeffle Roland, Neggers Sebastian J C M M, Visser Jenny A, de Graaff Laura C G
Abstract excerpt
PURPOSE: Congenital hypopituitarism (CH) can cause significant morbidity or even mortality. In the majority of patients, the etiology of CH is unknown. Understanding the etiology of CH is important for anticipation of clinical problems and for genetic counselling. Our previous studies showed that only a small proportion of cases have mutations in the known 'CH genes'. In the current project, we present the...
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