Literature DB >> 10051169

Two new cases of Cumming syndrome confirming autosomal recessive inheritance.

M J Pérez del Río1, J Fernández-Toral, B Madrigal, M González-González, P Ablanedo, A Herrero.   

Abstract

We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.

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Year:  1999        PMID: 10051169     DOI: 10.1002/(sici)1096-8628(19990212)82:4<340::aid-ajmg12>3.0.co;2-w

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Camptomelia in a rhesus macaque (Macaca mulatta).

Authors:  Kelly Hopper; Pablo Morales; Anapatricia Garcia; Joseph Wagner
Journal:  J Am Assoc Lab Anim Sci       Date:  2010-11       Impact factor: 1.232

  1 in total

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