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3. Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?. (March 2015)

4. Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues. Issue 20 (8th November 2022)

5. Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. Issue 7 (21st May 2013)

8. Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience. Issue 6 (19th April 2017)

10. RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome. Issue 6 (3rd May 2021)