Disease: Toriello Lacassie Droste syndrome
- Aplasia cutis congenita with epibulbar dermoids: further evidence for syndromic identity of the ocular ectodermal syndrome
- Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome
- Epibulbar Mass With Upper Eyelid Cleft and Focal Scalp Alopecia in a Neonate: A New Case of Oculoectodermal Syndrome
- Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
- Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature
- Identification of Codon 146 <em>KRAS</em> Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies
- Oculo-ectodermal syndrome: A case report and further delineation of the syndrome
- Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation
- Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations
- OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS
- Oculoectodermal syndrome: report of a new case with a broad clinical spectrum
- Oculoectodermal syndrome: twentieth described case with new manifestations
- Patient with recurrent mosaic KRAS variant: Rare oculoectodermal syndrome with severe neurologic phenotype
- Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys
- Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis