Literature DB >> 9350821

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).

A A Morris1, J S Sequeira, M Malone, S F Slaney, P T Clayton.   

Abstract

We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.

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Mesh：

Year:  1997        PMID： 9350821      PMCID： PMC1051095          DOI： 10.1136/jmg.34.10.852

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  Hereditary recurrent cholestasis with lymphoedema--two new families.

Authors:  O Aagenaes
Journal:  Acta Paediatr Scand       Date:  1974-05

2.  Hereditary recurrent intrahepatic cholestasis from birth.

Authors:  O Aagenaes; C B van der Hagen; S Refsum
Journal:  Arch Dis Child       Date:  1968-12       Impact factor: 3.791

3.  Hereditary lymphedema and obstructive jaundice.

Authors:  H L Sharp; W Krivit
Journal:  J Pediatr       Date:  1971-03       Impact factor: 4.406

4.  Aagenaes's syndrome in an Italian child.

Authors:  P Vajro; A Romano; A Fontanello; V Oggero; R Vecchione; D H Shmerling
Journal:  Acta Paediatr Scand       Date:  1984-09
  4 in total
  1 in total

1.  Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.

Authors:  L N Bull; E Roche; E J Song; J Pedersen; A S Knisely; C B van Der Hagen; K Eiklid; O Aagenaes; N B Freimer
Journal:  Am J Hum Genet       Date:  2000-08-30       Impact factor: 11.025
  1 in total

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