HACE1deficiency causes an autosomal recessive neurodevelopmental syndrome
نویسندگان
چکیده
منابع مشابه
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
BACKGROUND The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative genetic lesions in two families in which eight affected individuals displayed variable learning disability, spasticity and abnormal gait. ME...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2015
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2015-103344