Literature DB >> 7452413

Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling.

R M Fineman.   

Abstract

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Year:  1981        PMID： 7452413     DOI： 10.1016/s0022-3476(81)80546-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  8 in total

1.  Familial postaxial acrofacial dysostosis syndrome.

Authors:  A Giannotti; M C Digilio; Q Virgili; M G Obregon; A M Guadagni; T Ventura; B Dallapiccola
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

2.  A variant or a "new" postaxial acrofacial dysostosis syndrome.

Authors:  Jerzy Sułko; Dariusz Kotulski; Kazimierz Kozlowski
Journal:  Eur J Pediatr       Date:  2008-02-20       Impact factor: 3.183

3.  Autosomal recessive inheritance of Nager acrofacial dysostosis.

Authors:  J Chemke; B M Mogilner; I Ben-Itzhak; L Zurkowski; D Ophir
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

4.  Postaxial acrofacial dysostosis (Miller) syndrome.

Authors:  D Donnai; H E Hughes; R M Winter
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

Review 5.  Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

Authors:  J Vigneron; M Stricker; P Vert; J M Rousselot; M Levy
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

Review 6.  Nager acrofacial dysostosis.

Authors:  M T McDonald; J L Gorski
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

7.  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

8.  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
  8 in total

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