The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders

Brain. 2017 Aug 1;140(8):e49. doi: 10.1093/brain/awx155.

Vincenzo Salpietro¹, Massimo Zollo^{2

3

4}, Jana Vandrovcova¹, Mina Ryten¹, Juan A Botia¹, Veronica Ferrucci^{2

3

4}, Andreea Manole¹, Stephanie Efthymiou¹, Fuad Al Mutairi⁵, Enrico Bertini⁶, Marco Tartaglia^{1

6}; SYNAPS Study Group; Henry Houlden¹

¹ Department of Molecular Neuroscience, Institute of Neurology, UCL Institute of Neurology, London WC1N 3BG, UK.
² Department of Molecular Medicine and Medical Biotechnologies "DMMBM", University of Naples "Federico II", Naples 80131, Italy.
³ CEINGE Biotecnologie Avanzate, Naples 80131, Italy.
⁴ European School of Molecular Medicine, SEMM, University of Milan, Italy.
⁵ King Saud bin Abdulaziz University for Health Sciences, Department of Pediatrics, Division of Genetics, Riyadh 14611, Saudi Arabia.
⁶ Genetics and Rare Diseases Research Division, Ospedale Pediatrico "Bambino Gesù", Rome 00146, Italy.

No abstract available

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