ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.
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This study found that a missing copy of the ZNF764 gene in a child with a 16p11.2 deletion (who also had autism and developmental delays) may explain why some children with this deletion have difficulty responding normally to important hormones like cortisol, thyroid hormone, and androgens, which could guide doctors toward better monitoring and treatment for hormone-related issues.