TY  - GEN
AU  - Schrauwen,I
AU  - Sommen,M
AU  - Claes,C
AU  - Pinner,J
AU  - Flaherty,M
AU  - Collins,F
AU  - Van Camp,G
TI  - Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome
SN  - 1399-0004
PY  - 2015///0512
KW  - Agenesis of Corpus Callosum
KW  - genetics
KW  - Arthritis
KW  - Base Sequence
KW  - Collagen Diseases
KW  - Connective Tissue Diseases
KW  - Eye
KW  - pathology
KW  - Hearing Loss, Sensorineural
KW  - Hernias, Diaphragmatic, Congenital
KW  - Humans
KW  - Low Density Lipoprotein Receptor-Related Protein-2
KW  - Magnetic Resonance Imaging
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Myopia
KW  - Pedigree
KW  - Phenotype
KW  - Proteinuria
KW  - Renal Tubular Transport, Inborn Errors
KW  - Retinal Detachment
KW  - Sequence Analysis, DNA
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/cge.12265
ER  -