dx.doi.org
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of <fc><fi>SMAD4</fi></fc> Gain‐of‐Function Pathophysiology
Pathologic studies of Myhre syndrome (OMIM 139201) have provided modest insights into this ultra-rare multisystem disorder, with postmortem examinations being scarce. Morbidity is related to severe c...