Literature DB >> 16632669

Biliary hypoplasia in Williams syndrome.

K O'Reilly1, S F Ahmed, V Murday, P McGrogan.   

Abstract

Neonatal hepatitis and biliary hypoplasia are not recognised features of Williams syndrome. A case of Williams syndrome, presenting with neonatal conjugated hyperbilirubinaemia leading to an initial misdiagnosis is reported.

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Year:  2006        PMID： 16632669      PMCID： PMC2082744          DOI： 10.1136/adc.2005.074740

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


  5 in total

1.  Review of referrals for the FISH detection of Williams syndrome highlights the importance of testing in supravalvular aortic stenosis/pulmonary stenosis.

Authors:  L St Heaps; L Robson; A Smith
Journal:  Am J Med Genet       Date:  2001-01-01

Review 2.  Clinical and molecular genetics of Alagille syndrome.

Authors:  I D Krantz; D A Piccoli; N B Spinner
Journal:  Curr Opin Pediatr       Date:  1999-12       Impact factor: 2.856

3.  Cardiovascular manifestations in 75 patients with Williams syndrome.

Authors:  M Eronen; M Peippo; A Hiippala; M Raatikka; M Arvio; R Johansson; M Kähkönen
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

4.  Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

Authors:  M C Lowery; C A Morris; A Ewart; L J Brothman; X L Zhu; C O Leonard; J C Carey; M Keating; A R Brothman
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

5.  Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.

Authors:  D Alagille; A Estrada; M Hadchouel; M Gautier; M Odièvre; J P Dommergues
Journal:  J Pediatr       Date:  1987-02       Impact factor: 4.406
  5 in total
  2 in total

1.  Three-dimensional structural analysis reveals a Cdk5-mediated kinase cascade regulating hepatic biliary network branching in zebrafish.

Authors:  Manali Dimri; Cassandra Bilogan; Lain X Pierce; Gregory Naegele; Amit Vasanji; Isabel Gibson; Allyson McClendon; Kevin Tae; Takuya F Sakaguchi
Journal:  Development       Date:  2017-07-15       Impact factor: 6.868

2.  Williams syndrome presenting with findings consistent with Alagille syndrome.

Authors:  Pankaj Sakhuja; Hilary Whyte; Binita Kamath; Nicole Martin; David Chitayat
Journal:  Clin Case Rep       Date:  2014-11-07
  2 in total

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