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Office
3401 Civic Center Blvd
Childrens Hospital of Philadelphia General Peds
Philadelphia, PA 19104Phone+1 215-590-2164Fax+1 215-590-2180
Summary
- Dr. Rachel (Kaufman) Hachen, MD is a board certified pediatrician in Philadelphia, Pennsylvania. She is currently licensed to practice medicine in Pennsylvania. She is affiliated with Children's Hospital of Philadelphia.
Education & Training
Children's Hospital of PhiladelphiaResidency, Pediatrics, 1990 - 1996
Perelman School of Medicine at the University of PennsylvaniaClass of 1989
Certifications & Licensure
PA State Medical License 1993 - 2024- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Fellow (FAAP) American Academy of Pediatrics
Publications & Presentations
PubMed
- 75 citationsClinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks
Human Mutation. 2020-01-01 - 31 citationsJaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, o...Douglas R. Stewart, Hilde Brems, Alicia G. Gomes, Sarah L. Ruppert, Tom Callens
Genetics in Medicine. 2014-06-01 - 239 citationsAn absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1...Meena Upadhyaya, Susan M Huson, M. Davies, Nicholas Stuart Tudor Thomas, Nadia Chuzhanova
American Journal of Human Genetics. 2007-01-01
Professional Memberships
- Fellow
