CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report
Author:
Angelopoulou Eleni,
Theodosiou AthinaORCID,
Papaevripidou Ioannis,
Alexandrou Angelos,
Liehr ThomasORCID,
Gyftodimou Yolanda,
Stefanou Eunice G.,
Sismani CarolinaORCID
Subject
Multidisciplinary