Article
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.
European journal of human genetics : EJHG - 1 Aug 2016
O'Grady Gina L, Ma Alan, Sival Deborah, Wong Monica T Y, Peduto Tony, Menezes Manoj P, Young Helen, Waddell Leigh, Ghaoui Roula, Needham Merrilee, Lek Monkol, North Kathryn N, MacArthur Daniel G, van Ravenswaaij-Arts Conny Ma, Clarke Nigel F
Abstract excerpt
CHD7 variants are a well-established cause of CHARGE syndrome, a disabling multi-system malformation disorder that is often associated with deafness, visual impairment and intellectual disability. Less severe forms of CHD7-related disease are known to exist, but the full spectrum of phenotypes remains uncertain. We identified a de novo missense variant in CHD7 in a family presenting with musculoskeletal...
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