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Q40215646-6D2C91A6-1961-4508-8BEA-8E70675C0087
Q40215646-6D2C91A6-1961-4508-8BEA-8E70675C0087
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40215646-6D2C91A6-1961-4508-8BEA-8E70675C0087
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
P2860
Q40215646-6D2C91A6-1961-4508-8BEA-8E70675C0087
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40215646-6D2C91A6-1961-4508-8BEA-8E70675C0087
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
c2c289e17270d82ea1954d8933f3d49837621f0d
P2860
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.