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Rapadilino syndrome

Known as: Radial and patellar aplasia, Radial and patellar hypoplasia 
National Institutes of Health

Related topics

Related topics

7 relations

Broader (7)

Anal canalAtrial Septal DefectsBone structure of radiusDwarfism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Inflamed Liver: A Case of Hemophagocytic Lymphohistiocytosis and Colorectal Cancer in a Patient With Rapadilino Syndrome: 2360
2013
2013
Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum Disorder
The follow-up of a man from birth to adulthood, presenting with features both of RAPADILINO and Rothmund-Thomson syndrome (RTS… 
2008
2008
Molecular Genetics of RECQL 4 Syndromes
RAPADILINO syndrome is an autosomally resessively inherited condition that belongs to a group of rare syndromes more common in… 
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