Skip to search form Skip to main content

Semantic Scholar

All Fields

All Fields
Art
Biology
Business
Computer Science
Chemistry
Economics
Engineering
Environmental Science
Geography
Geology
History
Materials Science
Mathematics
Medicine
Philosophy
Physics
Political Science
Psychology
Sociology

EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS

Known as: EDSKMH

National Institutes of Health

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.

Barbara Lanthaler, Stefanie Wieser, +4 authors Martina Witsch-Baumgartner
Gene
2014

Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the… Expand

Is this relevant?

The Allen Institute for Artificial IntelligenceProudly built by AI2 with the help of our using these .
Terms of Service•Privacy Policy.