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EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
Known as:
EDSKMH
National Institutes of Health
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Related topics
Related topics
4 relations
Autosomal recessive inheritance
Flatfoot
Follicular hyperkeratosis
Muscular Atrophy
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Genotype-based databases for variants causing rare diseases.
B. Lanthaler
,
Stefanie Wieser
,
+4 authors
M. Witsch-Baumgartner
Gene
2014
Corpus ID: 7498031
Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the…
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