Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Sign Up to like & getrecommendations! Published in 2023 at "Endocrine connections"
DOI: 10.1530/ec-22-0473
Abstract: CONTEXT Congenital hypopituitarism is a genetically heterogeneous condition. Whole exome sequencing (WES) is a promising approach for molecular diagnosis of patients with this condition. OBJECTIVES To conduct WES in a patient with congenital hypopituitarism born… read more here.
Keywords: hypopituitarism; congenital hypopituitarism; homozygous cdh2; variant ... See more keywords
Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.697549
Abstract: Purpose Congenital hypopituitarism usually occurs sporadically. In most patients, the etiology remains unknown. Methods We studied 13 children with sporadic congenital hypopituitarism. Children with non-endocrine, non-familial idiopathic short stature (NFSS) (n = 19) served as… read more here.
Keywords: evidence etiology; etiology; major genetic; hypopituitarism major ... See more keywords