Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: A new entity in two families
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
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2. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy;The American Journal of Human Genetics;2017-03
3. Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment;The American Journal of Human Genetics;2017-03
4. Sleep-disordered breathing in children with congenital muscular dystrophies;European Journal of Paediatric Neurology;2012-11
5. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects;Arquivos de Neuro-Psiquiatria;2009-03
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