TY  - GEN
AU  - van der Ven,Amelie T
AU  - Kobbe,Birgit
AU  - Kohl,Stefan
AU  - Shril,Shirlee
AU  - Pogoda,Hans-Martin
AU  - Imhof,Thomas
AU  - Ityel,Hadas
AU  - Vivante,Asaf
AU  - Chen,Jing
AU  - Hwang,Daw-Yang
AU  - Connaughton,Dervla M
AU  - Mann,Nina
AU  - Widmeier,Eugen
AU  - Taglienti,Mary
AU  - Schmidt,Johanna Magdalena
AU  - Nakayama,Makiko
AU  - Senguttuvan,Prabha
AU  - Kumar,Selvin
AU  - Tasic,Velibor
AU  - Kehinde,Elijah O
AU  - Mane,Shrikant M
AU  - Lifton,Richard P
AU  - Soliman,Neveen
AU  - Lu,Weining
AU  - Bauer,Stuart B
AU  - Hammerschmidt,Matthias
AU  - Wagener,Raimund
AU  - Hildebrandt,Friedhelm
TI  - A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
SN  - 1932-6203
PY  - 2018///0221
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Animals
KW  - Animals, Newborn
KW  - Biomarkers, Tumor
KW  - chemistry
KW  - Calcium-Binding Proteins
KW  - Child
KW  - Consanguinity
KW  - Conserved Sequence
KW  - Exons
KW  - Extracellular Matrix Proteins
KW  - genetics
KW  - Fraser Syndrome
KW  - Gene Expression Regulation, Developmental
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Mice
KW  - Models, Animal
KW  - Models, Molecular
KW  - Mutation, Missense
KW  - Pedigree
KW  - Sequence Homology, Amino Acid
KW  - Urogenital Abnormalities
KW  - Urogenital System
KW  - growth & development
KW  - Vesico-Ureteral Reflux
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1371/journal.pone.0191224
ER  -