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Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.

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1 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