Literature DB >> 3435166

Dominantly inherited glomerulonephritis and an unusual skin disease.

M C Sherwood1, J R Pincott, F J Goodwin, M J Dillon.   

Abstract

An unusual association of uncommon facies including telangiectasia in a butterfly distribution, a similar skin lesion on extensor areas, sparse hair, and membranoproliferative glomerulonephritis is described in a 4 year old boy and his father. The mode of inheritance of these features seems to be autosomal dominant.

Entities:  

Mesh：

Year:  1987        PMID： 3435166      PMCID： PMC1778619          DOI： 10.1136/adc.62.12.1278

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

1.  X-linked mesangiocapillary glomerulonephritis.

Authors:  P R Stutchfield; R H White; A H Cameron; R A Thompson; P Mackintosh; L Wells
Journal:  Clin Nephrol       Date:  1986-09       Impact factor: 0.975

2.  The Rothmund-Thomson syndrome: case report of an unusual syndrome.

Authors:  R K Oates; M B Lewis; J A Walker-Smith
Journal:  Aust Paediatr J       Date:  1971-06

3.  Renal lesions in Cockayne's syndrome.

Authors:  T Ohno; M Hirooka
Journal:  Tohoku J Exp Med       Date:  1966-06-25       Impact factor: 1.848

4.  Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth.

Authors:  A Sawitsky; D Bloom; J German
Journal:  Ann Intern Med       Date:  1966-09       Impact factor: 25.391

5.  Membranoproliferative glomerulonephritis in two sibships.

Authors:  P L Berry; P T McEnery; A J McAdams; C D West
Journal:  Clin Nephrol       Date:  1981-08       Impact factor: 0.975

6.  Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome.

Authors:  F Mampaso; J Ecija; L Fogue; I Moneo; N Gallego; F Leyva-Cobian
Journal:  Nephron       Date:  1981       Impact factor: 2.847
  6 in total
  4 in total

Review 1.  Infantile hypertrophic pyloric stenosis--genetics and syndromes.

Authors:  Babette Peeters; Marc A Benninga; Raoul C M Hennekam
Journal:  Nat Rev Gastroenterol Hepatol       Date:  2012-07-10       Impact factor: 46.802

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

Authors:  Alberto López-Lera; Juan M Torres-Canizales; Sofía Garrido; Adelaida Morales; Margarita López-Trascasa
Journal:  J Invest Dermatol       Date:  2013-10-24       Impact factor: 8.551

3.  Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity.

Authors:  W Proesmans; E Legius; K Van Herck; B Van Damme
Journal:  Pediatr Nephrol       Date:  1989-04       Impact factor: 3.714

4.  Membranoproliferative glomerulonephritis in a girl and her mother.

Authors:  Osamu Motoyama; Ken Sakai; Yasushi Ohashi; Sonoo Mizuiri; Tsutomu Hatori; Kikuo Iitaka; Yasushi Koitabashi
Journal:  Clin Exp Nephrol       Date:  2008-07-19       Impact factor: 2.617
  4 in total

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