Biallelic prmt7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

HIGHLIGHTS

• who: Elisa Cali from the (UNIVERSITY) have published the Article: Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities, in the Journal: (JOURNAL) of 10/04/2022
• what: The authors aim to delineate the phenotypic spectrum of PRMT7-related disorder. The authors report a large cohort of 51 affected individuals from 39 different families, assembled by gathering clinical information from 36 newly described patients and reviewing data of 15 affected individuals from the literature. The authors report on the molecular and phenotypic spectrum . . .
  

   

  

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