Literature DB >> 3777025

Robin sequence and oligodactyly in mother and son.

M Robinow, G F Johnson, J Apesos.   

Abstract

A combination of the Robin sequence with pre- and postaxial oligodactyly was observed in a mother and her son. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.

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Mesh：

Year:  1986        PMID： 3777025     DOI： 10.1002/ajmg.1320250214

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


  3 in total

1.  Postaxial acrofacial dysostosis or Miller syndrome. A case report.

Authors:  D Barbuti; C Orazi; A Reale; C Paradisi
Journal:  Eur J Pediatr       Date:  1989-02       Impact factor: 3.183

2.  Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.

Authors:  A L Ogilvy-Stuart; A C Parsons
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

3.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330
  3 in total

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