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Article

Loss-of-Function Mutations in the LIM-Homeodomain Gene, LMX1B, in Nail-Patella Syndrome

1 Jul 1998

Abstract excerpt

Nail-patella syndrome (NPS) is an inherited developmental disorder most commonly involving maldevelopment of the fingernails, kneecaps and elbow joints. NPS exhibits wide variation in phenotypic expression within and among families with respect to these features. Other skeletal abnormalities such as hip dislocation and club foot have also been reported in some individuals with NPS. There is an association between...

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PMID: 9618165
DOI: 10.1093/hmg/7.7.1091

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Loss-of-Function Mutations in the LIM-Homeodomain Gene, LMX1B, in Nail-Patella SyndromePMID 9618165Read ↗

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.Semantic proximity Read ↗

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.Semantic proximity Read ↗

Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.Semantic proximity Read ↗

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.Semantic proximity Read ↗

Nail-patella syndrome. Overview on clinical and molecular findings.Semantic proximity Read ↗

Functional characterization of LMX1B mutations associated with nail-patella syndrome.Semantic proximity Read ↗

Mutation analysis of LMX1B gene in nail-patella syndrome patients.Semantic proximity Read ↗

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.Semantic proximity Read ↗

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.Semantic proximity Read ↗

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.Semantic proximity Read ↗

Nail-patella syndrome.Semantic proximity Read ↗

[From gene to disease; the nail-patella syndrome and the LMX1B gene].Semantic proximity Read ↗

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