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DGAP Case # 177
NIGMS CCR Cell Line #
Karotype46,XX,t(1;22)(q21;q12)
Age 
Phenotypic Sexfemale
Race 
PhenotypeSymmetrical bilateral oblique facial clefts, calcaneovarus foot deformity and severe bilateral ocular hypoplasia.
PubMed Link
Detailed Summary PDF
Contact Investigator Richard Maas
Other Data