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CK SYNDROME

Known as: MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION 
National Institutes of Health

Related topics

Related topics

18 relations
Aggressive behaviorByzanthine arch palateDifficulty sleepingGlobal developmental delay

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome
The NSDHL gene encodes 3β‐hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway… 
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