Literature DB >> 18627040

Clinical variability in acro-cardio-facial-syndrome.

Ariana Kariminejad1, Bita Bozorgmehr, Mohammad Ali Sedighi Gilani, Navid Almadani, Mohamad Hasan Kariminejad.   

Abstract

We report on a 25-year-old man with ectrodactyly and genital anomalies whose parents are first cousins. Their second child died 4 days after birth with severe limb defects and imperforate anus. Our patient may represent clinical variability of the acro-cardio-facial syndrome. Copyright 2008 Wiley-Liss, Inc.

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Year:  2008        PMID: 18627040     DOI: 10.1002/ajmg.a.32052

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  2 in total

1.  Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.

Authors:  Cindy Hudson; Corbin Schwanke; John P Johnson; Abdallah F Elias; Sandy Phillips; Tammy Schwalbe; Mary Tunby; Dongbin Xu
Journal:  Am J Med Genet A       Date:  2014-04-08       Impact factor: 2.802

Review 2.  Acro-cardio-facial syndrome.

Authors:  Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2010-09-29       Impact factor: 4.123

  2 in total

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