Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

W. Borozdin; M. J. Wright; R. C. M. Hennekam; M. C. Hannibal; Y. J. Crow; T. E. Neumann; J. Kohlhase

doi:10.1136/jmg.2004.019505

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

W. Borozdin
, M. J. Wright
, R. C. M. Hennekam
, M. C. Hannibal
, Y. J. Crow
, T. E. Neumann
, J. Kohlhase

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

Original language	English
Pages (from-to)	e102
Journal	Journal of medical genetics
Volume	41
Issue number	8
DOIs	https://doi.org/10.1136/jmg.2004.019505
Publication status	Published - 2004

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10.1136/jmg.2004.019505

Cite this

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title = "Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum",

author = "W. Borozdin and Wright, \{M. J.\} and Hennekam, \{R. C. M.\} and Hannibal, \{M. C.\} and Crow, \{Y. J.\} and Neumann, \{T. E.\} and J. Kohlhase",

year = "2004",

doi = "10.1136/jmg.2004.019505",

language = "English",

volume = "41",

pages = "e102",

journal = "Journal of medical genetics",

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T1 - Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

AU - Borozdin, W.

AU - Wright, M. J.

AU - Hennekam, R. C. M.

AU - Hannibal, M. C.

AU - Crow, Y. J.

AU - Neumann, T. E.

AU - Kohlhase, J.

PY - 2004

Y1 - 2004

U2 - 10.1136/jmg.2004.019505

DO - 10.1136/jmg.2004.019505

M3 - Article

C2 - 15286162

SN - 0022-2593

VL - 41

SP - e102

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 8

ER -