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HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY

Known as: ASPARTYL-tRNA SYNTHETASE DEFICIENCY, HBSL 
National Institutes of Health

Related topics

Related topics

6 relations
Autosomal recessive inheritanceDARS, ARG487CYSDARS, MET256LEUHypoplasia of the corpus callosum

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Hypomyelination with Brainstem and Spinal Cord Abnormalities and Leg Spasticity (HBSL)
Leukodystrophies are genetic disorders of the myelin that affect 1 in 7000 live births, 50% of which remain undiagnosed after… 
2013
2013
O14 – 1917 Hypomyelination with brain stem and spinal cord involvement and severe leg spasticity (HBSL): mutations in DARS are responsible
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