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Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

1 Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia 2 School of Paediatrics and Child Health, University of ...
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Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)

1 Department of Clinical Neurosciences, Guy’s, Kings and St. Thomas’ School of Medicine, London, UK 2 Centre for Neuroscience Research, Guy’s, Kings and St. Thomas’ School of Biomedical Sciences, ...
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Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

Correspondence to Professor Jean-Michel Vallat, Department of Neurology, Centre de référence “Neuropathies périphériques rares”, University hospital, 2 Avenue Martin Luther King, Limoges 87042, France ...
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Comprehensive genetic landscapes and clinical heterogeneity in nanophthalmos: new insights from a large Chinese cohort

1 Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China Background Nanophthalmos is a rare ocular condition characterised by a significantly short axial ...
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Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes

A structural aberration (SA) with secondary implications (SASIs) involving a cancer susceptibility gene is identified on chromosome microarray in approximately 0.6% tests performed on index cases.