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Article

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

Journal of medical genetics - 1 Aug 2004

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

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Identifiers

PMID: 15286162
DOI: 10.1136/jmg.2004.019505
PMCID: PMC1735876

Genes

SALL4

Provenance

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Related research

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Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.PMID 15286162Read ↗

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.Semantic proximity Read ↗

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.Semantic proximity Read ↗

Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)Semantic proximity Read ↗

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.Semantic proximity Read ↗

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Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotypeSemantic proximity Read ↗

On the expansion of the phenotype of the acro-renal-ocular syndrome.Semantic proximity Read ↗

A de novo mutation of SALL4 gene in a Chinese family with Okihiro syndromeSemantic proximity Read ↗

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: A case report and expanding the phenotypic spectrumSemantic proximity Read ↗

Essential roles of Sall1 in kidney developmentSemantic proximity Read ↗

A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.Semantic proximity Read ↗

Alport syndrome--clinical phenotypes, incidence, and pathology.Semantic proximity Read ↗

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