TY  - GEN
AU  - Gliem,Martin
AU  - Holz,Frank G
AU  - Stöhr,Heidi
AU  - Weber,Bernhard H F
AU  - Charbel Issa,Peter
TI  - X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient
SN  - 1539-2864
PY  - 2015///0421
KW  - Adult
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Electroretinography
KW  - Eye Proteins
KW  - genetics
KW  - Female
KW  - Fluorescein Angiography
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Retinal Pigments
KW  - Retinoschisis
KW  - diagnosis
KW  - Tomography, Optical Coherence
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1097/IAE.0000000000000243
ER  -