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SYMPHALANGISM, PROXIMAL, 1B
Known as:
SYM1B
National Institutes of Health
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1 relation
GDF5, GLU491LYS
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2016
2016
Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family
A. Leonidou
,
M. Irving
,
S. Holden
,
M. Katchburian
World Journal of Orthopaedics
2016
Corpus ID: 15511281
Proximal symphalangism (SYM1B) (OMIM 615298) is an autosomal dominant developmental disorder affecting joint fusion. It is…
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