Natural history of myhre syndrome

HIGHLIGHTS

• who: David Dawei Yang from the Since the canonical description of MS, about , patients have been published in the literature, including , patients with molecular confirmation [1-22]Reported cases showed that consistent features are short stature, facial dysmorphism, thickened skin, joint limitation and muscular hypertrophia. Less frequent features have been also reported with a wide range of clinical presentation [4], including life-threathing complications such as pericarditis and laryngotracheal stenosis [23]. Nevertheless, the natural history of MS remains incompletely understood. Natural history studies of rare genetic diseases encounter two major issues: a low number of cases in . . .
  

   

  

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