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EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
Known as:
EHLMRS
National Institutes of Health
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Related topics
Related topics
6 relations
Autosomal recessive inheritance
Developmental delay (disorder)
Intellectual disability, severe
Muscle Spasticity
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2017
2017
Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.
K. Szczałuba
,
K. Szymańska
,
+7 authors
R. Płoski
Advances in experimental medicine and biology
2017
Corpus ID: 7844684
Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic…
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