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Article

Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.

The Journal of investigative dermatology - 1 Apr 2014

López-Lera Alberto, Torres-Canizales Juan M, Garrido Sofía, Morales Adelaida, López-Trascasa Margarita

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Identifiers

PMID: 24157463
DOI: 10.1038/jid.2013.444

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Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.PMID 24157463Read ↗

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Homozygous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodiesSemantic proximity Read ↗

Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency.Semantic proximity Read ↗

Update on hereditary C1q deficiency: pathophysiology, clinical presentation, genotype and management.Semantic proximity Read ↗

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