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Q50355103-F9DCDC29-3540-4BE3-BA83-BA3FF778D10E
Q50355103-F9DCDC29-3540-4BE3-BA83-BA3FF778D10E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50355103-F9DCDC29-3540-4BE3-BA83-BA3FF778D10E
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
P2860
Q50355103-F9DCDC29-3540-4BE3-BA83-BA3FF778D10E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50355103-F9DCDC29-3540-4BE3-BA83-BA3FF778D10E
rank
NormalRank
type
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Statement
wasDerivedFrom
4af6b221cb995569a2241a19ff3c6fe2e2a67df8
P2860
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome