Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the ABL1 Gene in a Peruvian patient: Case Report
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We present the clinical case of a 20-year-old male patient who presented recurrent pneumothorax on 5 occasions; in addition, he revealed a history of skeletal malformations in the hands and joint hypermobility. A genetic panel for connective tissue disorders w... ...
