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; M M Jablonski

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, M M Jablonski

Division of Evolution, Infection and Genomics

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	e118
Journal	Journal of Medical Genetics
Volume	40
Issue number	11
Publication status	Published - Nov 2003

Keywords

Adolescent
Aged
Amino Acid Sequence
Child
Chromosomes, Human, X
Eye Proteins
Female
Genetic Linkage
Hearing Disorders
Humans
Immunohistochemistry
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Recurrence
Respiratory Tract Infections
Retinitis Pigmentosa
Syndrome
Comment
Letter
Multicenter Study
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Cite this

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, M. 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, 40(11), e118.

@article{346ac1d048af40f4b5e32f58d73161a5,

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

keywords = "Adolescent, Aged, Amino Acid Sequence, Child, Chromosomes, Human, X, Eye Proteins, Female, Genetic Linkage, Hearing Disorders, Humans, Immunohistochemistry, Male, Middle Aged, Molecular Sequence Data, Mutation, Pedigree, Recurrence, Respiratory Tract Infections, Retinitis Pigmentosa, Syndrome, Comment, Letter, Multicenter Study, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.",

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 Jablonski, {M M}",

year = "2003",

month = nov,

language = "English",

volume = "40",

pages = "e118",

journal = "Journal of Medical Genetics",

issn = "1468-6244",

publisher = "BMJ ",

number = "11",

}

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, MM 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, pp. e118.

TY - JOUR

T1 - Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

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, M M

PY - 2003/11

Y1 - 2003/11

KW - Adolescent

KW - Aged

KW - Amino Acid Sequence

KW - Child

KW - Chromosomes, Human, X

KW - Eye Proteins

KW - Female

KW - Genetic Linkage

KW - Hearing Disorders

KW - Humans

KW - Immunohistochemistry

KW - Male

KW - Middle Aged

KW - Molecular Sequence Data

KW - Mutation

KW - Pedigree

KW - Recurrence

KW - Respiratory Tract Infections

KW - Retinitis Pigmentosa

KW - Syndrome

KW - Comment

KW - Letter

KW - Multicenter Study

KW - Research Support, Non-U.S. Gov't

KW - Research Support, U.S. Gov't, P.H.S.

M3 - Article

C2 - 14627685

SN - 1468-6244

VL - 40

SP - e118

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 11

ER -