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Q37188679-D43678A5-BC42-4FE2-8287-9510D43DDE91
Q37188679-D43678A5-BC42-4FE2-8287-9510D43DDE91
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37188679-D43678A5-BC42-4FE2-8287-9510D43DDE91
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.
P2860
Q37188679-D43678A5-BC42-4FE2-8287-9510D43DDE91
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37188679-D43678A5-BC42-4FE2-8287-9510D43DDE91
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Statement
wasDerivedFrom
d5b7dfc90eb8cdf544a7e61b1bc4324b7b3d957c
P2860
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia