Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

F. Recker; M. Zaniew; D. Bockenhauer; N. Miglietti; A. Bokenkamp; A. Moczulska; A. Rogowska-Kalisz; G. Laube; V. Said-Conti; B. Kasap-Demir; A. Niemirska; M. Litwin; G. Siten; K.H. Chrzanowska; M. Krajewska-Walasek; S.K. Sethi; V. Tasic; F. Anglani; M. Addis; A. Wasilewska; M. Szczepanska; K. Pawlaczyk; P. Sikora; M. Ludwig

doi:10.1007/s00467-014-3013-2

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

F. Recker, M. Zaniew, D. Bockenhauer, N. Miglietti, A. Bokenkamp, A. Moczulska, A. Rogowska-Kalisz, G. Laube, V. Said-Conti, B. Kasap-Demir, A. Niemirska, M. Litwin, G. Siten, K.H. Chrzanowska, M. Krajewska-Walasek, S.K. Sethi, V. Tasic, F. Anglani, M. Addis, A. WasilewskaM. Szczepanska, K. Pawlaczyk, P. Sikora, M. Ludwig

Pediatric surgery

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

Original language	Undefined/Unknown
Pages (from-to)	931-943
Journal	Pediatric Nephrology
Volume	30
Issue number	6
DOIs	https://doi.org/10.1007/s00467-014-3013-2
Publication status	Published - 2015

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10.1007/s00467-014-3013-2

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Recker, F., Zaniew, M., Bockenhauer, D., Miglietti, N., Bokenkamp, A., Moczulska, A., Rogowska-Kalisz, A., Laube, G., Said-Conti, V., Kasap-Demir, B., Niemirska, A., Litwin, M., Siten, G., Chrzanowska, K. H., Krajewska-Walasek, M., Sethi, S. K., Tasic, V., Anglani, F., Addis, M., ... Ludwig, M. (2015). Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatric Nephrology, 30(6), 931-943. https://doi.org/10.1007/s00467-014-3013-2

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author = "F. Recker and M. Zaniew and D. Bockenhauer and N. Miglietti and A. Bokenkamp and A. Moczulska and A. Rogowska-Kalisz and G. Laube and V. Said-Conti and B. Kasap-Demir and A. Niemirska and M. Litwin and G. Siten and K.H. Chrzanowska and M. Krajewska-Walasek and S.K. Sethi and V. Tasic and F. Anglani and M. Addis and A. Wasilewska and M. Szczepanska and K. Pawlaczyk and P. Sikora and M. Ludwig",

year = "2015",

doi = "10.1007/s00467-014-3013-2",

language = "Undefined/Unknown",

volume = "30",

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Recker, F, Zaniew, M, Bockenhauer, D, Miglietti, N, Bokenkamp, A, Moczulska, A, Rogowska-Kalisz, A, Laube, G, Said-Conti, V, Kasap-Demir, B, Niemirska, A, Litwin, M, Siten, G, Chrzanowska, KH, Krajewska-Walasek, M, Sethi, SK, Tasic, V, Anglani, F, Addis, M, Wasilewska, A, Szczepanska, M, Pawlaczyk, K, Sikora, P & Ludwig, M 2015, 'Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome', Pediatric Nephrology, vol. 30, no. 6, pp. 931-943. https://doi.org/10.1007/s00467-014-3013-2

TY - JOUR

T1 - Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

AU - Recker, F.

AU - Zaniew, M.

AU - Bockenhauer, D.

AU - Miglietti, N.

AU - Bokenkamp, A.

AU - Moczulska, A.

AU - Rogowska-Kalisz, A.

AU - Laube, G.

AU - Said-Conti, V.

AU - Kasap-Demir, B.

AU - Niemirska, A.

AU - Litwin, M.

AU - Siten, G.

AU - Chrzanowska, K.H.

AU - Krajewska-Walasek, M.

AU - Sethi, S.K.

AU - Tasic, V.

AU - Anglani, F.

AU - Addis, M.

AU - Wasilewska, A.

AU - Szczepanska, M.

AU - Pawlaczyk, K.

AU - Sikora, P.

AU - Ludwig, M.

PY - 2015

Y1 - 2015

U2 - 10.1007/s00467-014-3013-2

DO - 10.1007/s00467-014-3013-2

M3 - Article

C2 - 25480730

VL - 30

SP - 931

EP - 943

JO - Pediatric Nephrology

JF - Pediatric Nephrology

SN - 0931-041X

IS - 6

ER -