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:https://doi.org/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

Paediatric Genetics (AMC)

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

56 Citations (Scopus)

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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https://doi.org/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 = "https://doi.org/10.1136/jmg.2004.019505",

language = "English",

volume = "41",

pages = "e102",

journal = "Journal of medical genetics",

issn = "0022-2593",

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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 - https://doi.org/10.1136/jmg.2004.019505

DO - https://doi.org/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 -