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X-linked duplication copy number variation in a familial overgrowth condition.

Am J Med Genet C Semin Med Genet

December 2019

Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.

We describe an overgrowth condition associated with X-linked copy number variation. Three brothers displayed an overgrowth pattern at birth that continued postnatally. Clinical findings included macrocephaly, distinctive facial features, developmental delay and variable clubfoot.

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