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White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects
New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini+14 more
wiley +1 more source
ABSTRACT Background Hearing and visual impairments are common in individuals with Down syndrome (DS), yet it remains unclear whether sensory impairments are associated with cognitive and behavioural functioning such as language, memory and socialisation. This literature review examines those associations.
Nicolo J. Betoni+3 more
wiley +1 more source
Strabismus Surgery for Psychosocial Reasons—A Literature Review
Introduction: Strabismus surgery may be undertaken for visual benefit, to improve or eliminate diplopia symptoms, or to restore or improve binocular single vision (BSV).
Gemma Arblaster+3 more
doaj +1 more source
Gaucher disease, state of the art and perspectives
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Fabrice Camou, Marc G. Berger
wiley +1 more source
Orthoptic Treatment of Accommodative Convergent Strabismus [PDF]
S Mayou
openalex +1 more source
Abstract Purpose Chronic hyperopic defocus from inadequate accommodation during near tasks may be associated with axial eye growth. This study examined accommodative behaviour and retinal defocus in myopic and emmetropic children after 1 h of continuous electronic device use.
Neeraj K. Singh, Pete Kollbaum
wiley +1 more source