SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis

ConclusionsSEC31A might underlie a previously unrecognised clinical syndrome comprising gonadal dysgenesis, multiple pituitary hormone deficiencies, dysmorphic features and developmental delay. However, a variant that remains undetected, in a different gene, may alternatively be causal in this family.
Source: Endocrine - Category: Endocrinology Source Type: research