Literature DB >> 8462192

Familial occurrence of hereditary renal adysplasia with müllerian anomalies.

J Battin1, D Lacombe, J J Leng.   

Abstract

We report on a family with unilateral or bilateral renal agenesis and Müllerian anomalies (vaginal atresia or minor anomalies). This family provides support for an autosomal dominant pattern of inheritance with incomplete penetrance and variable expressivity in hereditary renal adysplasia (HRA) associated with Müllerian defects.

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Year:  1993        PMID： 8462192     DOI： 10.1111/j.1399-0004.1993.tb04420.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report.

Authors:  Pedro Acién; Francisco Galán; Irene Manchón; Eva Ruiz; Maribel Acién; Luis A Alcaraz
Journal:  Orphanet J Rare Dis       Date:  2010-04-14       Impact factor: 4.123

2.  The role of a single formin isoform in the limb and renal phenotypes of limb deformity.

Authors:  A Wynshaw-Boris; G Ryan; C X Deng; D C Chan; L Jackson-Grusby; D Larson; J H Dunmore; P Leder
Journal:  Mol Med       Date:  1997-06       Impact factor: 6.354

3.  The PAX2 tanscription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations.

Authors:  P J Winyard; R A Risdon; V R Sams; G R Dressler; A S Woolf
Journal:  J Clin Invest       Date:  1996-07-15       Impact factor: 14.808

4.  Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  Paola Pontecorvi; Laura Bernardini; Anna Capalbo; Simona Ceccarelli; Francesca Megiorni; Enrica Vescarelli; Irene Bottillo; Nicoletta Preziosi; Maria Fabbretti; Giorgia Perniola; Pierluigi Benedetti Panici; Antonio Pizzuti; Paola Grammatico; Cinzia Marchese
Journal:  Sci Rep       Date:  2021-01-11       Impact factor: 4.379
  4 in total

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