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Article

[Germinal loss-of-function mutations in the spred1 gene cause conditions similar to neurofibromatosis type 1].

Annales de dermatologie et de venereologie - 1 Jan 2000

Dereure O

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18598812
DOI: 10.1016/j.annder.2008.04.004

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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

[Germinal loss-of-function mutations in the spred1 gene cause conditions similar to neurofibromatosis type 1].PMID 18598812Read ↗

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.Semantic proximity Read ↗

[Missense mutation of SPRY4 gene in Kallmann syndrome: a case report].Semantic proximity Read ↗

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.Semantic proximity Read ↗

<i>SPRED1</i> variants reveal differential impacts on signaling dynamicsSemantic proximity Read ↗

Novel mutation in SPRED1: a sporadic case of Legius syndrome in an infant.Semantic proximity Read ↗

Genetics: SGPL1 mutations cause a novel SRNS syndrome.Semantic proximity Read ↗

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.Semantic proximity Read ↗

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.Semantic proximity Read ↗

[Adermatoglyphia or "immigration delay disease": the role of mutations in the SMARCAD1 gene].Semantic proximity Read ↗

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1Semantic proximity Read ↗

[Molecular genetics of neurofibromatosis type 1].Semantic proximity Read ↗

<i>SPRED1</i> mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotypeSemantic proximity Read ↗

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