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Article

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

Journal of medical genetics - 1 Sept 2004

Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Mühlendyck H, Winter R, Giray O, Silan F, Kohlhase J

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Share to Abnormalities, Multiple
Share to Chromosome Breakage
Share to In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymerase Chain Reaction

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Source

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Identifiers

PMID: 15342710
DOI: 10.1136/jmg.2004.019901
PMCID: PMC1735888

Genes

SALL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.PMID 15342710Read ↗

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

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

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

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.Semantic proximity Read ↗

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

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

Nephronophthisis: A Genetically Diverse CiliopathySemantic proximity Read ↗

Essential roles of Sall1 in kidney developmentSemantic proximity Read ↗

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.Semantic proximity Read ↗

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.Semantic proximity Read ↗

Ocular manifestations of renal ciliopathiesSemantic proximity Read ↗

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