Journal
AMERICAN JOURNAL OF MEDICAL GENETICS
Volume 103, Issue 2, Pages 163-165Publisher
WILEY-LISS
DOI: 10.1002/ajmg.1517
Keywords
Myhre syndrome; short stature; muscular build; autism
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Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility. We report on a 14-year-old boy with clinical findings consistent with a diagnosis of Myhre syndrome, associated with autism and peculiar skin histological findings. (C) 2001 Wiley-Liss, Inc.
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