ESPE Yearbook of Paediatric Endocrinology

Horm Res Paediatr. 2021;94(11-12):456-466. PMID: 35086092Brief Summary: This study reports 2 girls with a complex phenotype associated with severe short stature and IUGR who were diagnosed with a de novo 17p13. 3 deletion by array-CGH. The deletion involved the CRK gene that transcribes for Crk protein, a component of GH and IGF-I receptor signaling pathways. In vitro assay confirmed defective CRK expression and GH/IGF1 signali...