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. 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. Hennekam, M. C. Hannibal, Y. J. Crow, T. E. Neumann, J. Kohlhase

Research output: Contribution to journal › Article › 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 - Aug 2004

Keywords

Adult
Child, Preschool
genetics: Duane Retraction Syndrome
genetics: Eye Abnormalities
Female
Humans
abnormalities: Kidney
Male
Molecular Sequence Data
genetics: Mutation
Pedigree
Phenotype
Syndrome
genetics: Transcription Factors

Access to Document

10.1136/jmg.2004.019505

Cite this

@article{f26bf97317b3496aa78e39d6b1b14932,

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.",

keywords = "Adult, Child, Preschool, genetics: Duane Retraction Syndrome, genetics: Eye Abnormalities, Female, Humans, abnormalities: Kidney, Male, Molecular Sequence Data, genetics: Mutation, Pedigree, Phenotype, Syndrome, genetics: Transcription Factors",

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

year = "2004",

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volume = "41",

pages = "e102",

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issn = "1468-6244",

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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.

AU - Hannibal, M. C.

AU - Crow, Y. J.

AU - Neumann, T. E.

AU - Kohlhase, J.

PY - 2004/8

Y1 - 2004/8

KW - Adult

KW - Child, Preschool

KW - genetics: Duane Retraction Syndrome

KW - genetics: Eye Abnormalities

KW - Female

KW - Humans

KW - abnormalities: Kidney

KW - Male

KW - Molecular Sequence Data

KW - genetics: Mutation

KW - Pedigree

KW - Phenotype

KW - Syndrome

KW - genetics: Transcription Factors

U2 - 10.1136/jmg.2004.019505

DO - 10.1136/jmg.2004.019505

M3 - Article

SN - 1468-6244

VL - 41

SP - e102

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 8

ER -