title: Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.
authors.affiliation: Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain. Electronic address: alberlole@gmail.com.
authors.forename: Alberto
authors.initials: A
authors.lastname: López-Lera
authors.affiliation: Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain.
authors.forename: Juan M
authors.initials: JM
authors.lastname: Torres-Canizales
authors.affiliation: Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.
authors.forename: Sofía
authors.initials: S
authors.lastname: Garrido
authors.affiliation: Nephrology Unit from Hospital Dr Molina Orosa. Ctra. Arrecife-Tinajo, Lanzarote, Spain.
authors.forename: Adelaida
authors.initials: A
authors.lastname: Morales
authors.affiliation: Immunology Unit and Institute for Health Research (IdiPAZ) at La Paz University Hospital, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain. Electronic address: a_lopezlera@yahoo.es.
authors.forename: Margarita
authors.initials: M
authors.lastname: López-Trascasa
mesh_terms: D000328:Adult; D002386:Cataract / Q000150:complications / Q000235:genetics; D015331:Cohort Studies; D015922:Complement C1q / Q000235:genetics*; D004890:Erythema / Q000150:complications / Q000235:genetics; D005091:Exons; D005921:Glomerulonephritis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005998:Glycine / Q000737:chemistry; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010641:Phenotype; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D012694:Serine / Q000737:chemistry; D012871:Skin Diseases / Q000150:complications / Q000235:genetics; D013030:Spain
chemical_list: D012694:Serine; D015922:Complement C1q; D005998:Glycine