Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.

A. Iannaccone, D. K. Breuer, X. F. Wang, S. F. Kuo, E. M. Normando, E. Filippova, A. Baldi, S. Hiriyanna, C. B. MacDonald, F. Baldi, D. Cosgrove, C. C. Morton, A. Swaroop, Monica Jablonski

Research output: Contribution to journalComment/debate

77 Citations (Scopus)
Original languageEnglish (US)
JournalJournal of medical genetics
Volume40
Issue number11
StatePublished - Nov 1 2003

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Eye Proteins
Molecular Sequence Data
Chromosomes, Human, X
Hearing Disorders
Genetic Linkage
Retinitis Pigmentosa
Pedigree
Hearing Loss
Respiratory Tract Infections
Amino Acid Sequence
Immunohistochemistry
Recurrence
Mutation
Infection
RHYNS syndrome

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. / Iannaccone, A.; Breuer, D. K.; Wang, X. F.; Kuo, S. F.; Normando, E. M.; Filippova, E.; Baldi, A.; Hiriyanna, S.; MacDonald, C. B.; Baldi, F.; Cosgrove, D.; Morton, C. C.; Swaroop, A.; Jablonski, Monica.

In: Journal of medical genetics, Vol. 40, No. 11, 01.11.2003.

Research output: Contribution to journalComment/debate

Iannaccone, A, Breuer, DK, Wang, XF, Kuo, SF, Normando, EM, Filippova, E, Baldi, A, Hiriyanna, S, MacDonald, CB, Baldi, F, Cosgrove, D, Morton, CC, Swaroop, A & Jablonski, M 2003, 'Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation.', Journal of medical genetics, vol. 40, no. 11.
Iannaccone, A. ; Breuer, D. K. ; Wang, X. F. ; Kuo, S. F. ; Normando, E. M. ; Filippova, E. ; Baldi, A. ; Hiriyanna, S. ; MacDonald, C. B. ; Baldi, F. ; Cosgrove, D. ; Morton, C. C. ; Swaroop, A. ; Jablonski, Monica. / Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. In: Journal of medical genetics. 2003 ; Vol. 40, No. 11.
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author = "A. Iannaccone and Breuer, {D. K.} and Wang, {X. F.} and Kuo, {S. F.} and Normando, {E. M.} and E. Filippova and A. Baldi and S. Hiriyanna and MacDonald, {C. B.} and F. Baldi and D. Cosgrove and Morton, {C. C.} and A. Swaroop and Monica Jablonski",
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AU - Iannaccone, A.

AU - Breuer, D. K.

AU - Wang, X. F.

AU - Kuo, S. F.

AU - Normando, E. M.

AU - Filippova, E.

AU - Baldi, A.

AU - Hiriyanna, S.

AU - MacDonald, C. B.

AU - Baldi, F.

AU - Cosgrove, D.

AU - Morton, C. C.

AU - Swaroop, A.

AU - Jablonski, Monica

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VL - 40

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

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