Browsing Institutt for klinisk medisin by Author "C4RCD, Research Group"

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  • The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome 
    Chen, Chun-An; Crutcher, Emeline; Gill, Harinder; Nelson, Tanya N.; Robak, Laurie A.; Jongmans, Marjolijn C.J.; Pfundt, Rolph; Prasad, Chitra; Berard, Roberta A.; Fannemel, Madeleine; Frengen, Eirik; Misceo, Doriana; Ramsey, Keri; Yang, Yaping; Schaaf, Christian P.; Wang, Xia; CAUSES, Study; C4RCD, Research Group (Journal article / Tidsskriftartikkel / AcceptedVersion; Peer reviewed, 2020)
    Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. CHDSKM is caused by ...