Increasing evidence for syndromic phenotypes associated with RPGR mutations

Alessandro Iannaccone; Xiaofei Wang; Monica M Jablonski; Sharon F Kuo; Alfonso Baldi; Dominic Cosgrove; Cynthia C Morton; Anand Swaroop

doi:10.1016/j.ajo.2003.11.050

Increasing evidence for syndromic phenotypes associated with RPGR mutations

Alessandro Iannaccone, Xiaofei Wang, Monica M Jablonski, Sharon F Kuo, Alfonso Baldi, Dominic Cosgrove, Cynthia C Morton, Anand Swaroop

Division of Evolution, Infection and Genomics

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

Original language	English
Pages (from-to)	785-6; author reply 786
Journal	American journal of ophthalmology
Volume	137
Issue number	4
DOIs	https://doi.org/10.1016/j.ajo.2003.11.050
Publication status	Published - Apr 2004

Keywords

Eye Proteins
Frameshift Mutation
Genetic Diseases, X-Linked
Hearing Loss, Sensorineural
Humans
Phenotype
Retinitis Pigmentosa
Syndrome
Comment
Letter

Access to Document

10.1016/j.ajo.2003.11.050

Cite this

@article{0e960d9486d2439fa694f17c55bd2b50,

title = "Increasing evidence for syndromic phenotypes associated with RPGR mutations",

keywords = "Eye Proteins, Frameshift Mutation, Genetic Diseases, X-Linked, Hearing Loss, Sensorineural, Humans, Phenotype, Retinitis Pigmentosa, Syndrome, Comment, Letter",

author = "Alessandro Iannaccone and Xiaofei Wang and Jablonski, {Monica M} and Kuo, {Sharon F} and Alfonso Baldi and Dominic Cosgrove and Morton, {Cynthia C} and Anand Swaroop",

year = "2004",

month = apr,

doi = "10.1016/j.ajo.2003.11.050",

language = "English",

volume = "137",

pages = "785--6; author reply 786",

journal = "American journal of ophthalmology",

issn = "0002-9394",

publisher = "Elsevier BV",

number = "4",

}

TY - JOUR

T1 - Increasing evidence for syndromic phenotypes associated with RPGR mutations

AU - Iannaccone, Alessandro

AU - Wang, Xiaofei

AU - Jablonski, Monica M

AU - Kuo, Sharon F

AU - Baldi, Alfonso

AU - Cosgrove, Dominic

AU - Morton, Cynthia C

AU - Swaroop, Anand

PY - 2004/4

Y1 - 2004/4

KW - Eye Proteins

KW - Frameshift Mutation

KW - Genetic Diseases, X-Linked

KW - Hearing Loss, Sensorineural

KW - Humans

KW - Phenotype

KW - Retinitis Pigmentosa

KW - Syndrome

KW - Comment

KW - Letter

U2 - 10.1016/j.ajo.2003.11.050

DO - 10.1016/j.ajo.2003.11.050

M3 - Article

C2 - 15059739

SN - 0002-9394

VL - 137

SP - 785-6; author reply 786

JO - American journal of ophthalmology

JF - American journal of ophthalmology

IS - 4

ER -