K. Doonanco

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Martin W. Breuss, D. Keays, J. Vermeesch, 2015, American journal of human genetics.

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

F. Couch, K. Offit, Kristy Lee, 2018, Genetics in Medicine.

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

M. Hurles, C. Woods, H. Firth, 2013, Human mutation.

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

F. Couch, K. Offit, Kristy Lee, 2018, Genetics in Medicine.