Total: 1 |
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PMID (PMCID) | ||
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21548061 |
FEMALE | Child |
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. | ||
Ekvall S, Hagenas L, Allanson J, Anneren G, Bondeson ML. Am J Med Genet A. 2011;155A(6):1217-24. |
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Here, we present a clinical and molecular characterization of a patient with Noonan-like syndrome with loose anagen hair phenotype and additional features including mild psychomotor developmental delay, osteoporosis, gingival hyperplasia, spinal neuroblastoma, intrathoracic extramedullary hematopoiesis, and liver hemangioma. |