Helsmoortel-van der aa syndrome—cardiothoracic and ectodermal manifestations in two patients as further support of a previous observation on phenotypic overlap with rasopathies

HIGHLIGHTS

  • who: Tu00edmea Margit Szabu00f3 and colleagues from the Institute of Paediatrics, Faculty of Medicine, University of, have published the paper: Helsmoortel-Van der Aa Syndromeu2014Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies, in the Journal: Genes 2022, 13, x FOR PEER REVIEW of /2022/
  • what: Over-representation of mitral valve dysplasia and septal defects in Noonan-like syndrome with loose anagen hair in comparison with classic Noonan syndrome was also described by Hannig et_al (Patient 1 in the study had atrial septal defect and . . .

     

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