Literature DB >> 28872563

Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser-Winter malformation syndrome.

Avi Saskin1, Marc Tischkowitz.   

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Year:  2017        PMID: 28872563     DOI: 10.1097/MCD.0000000000000197

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


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  1 in total

1.  A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.

Authors:  Kristina Sibbin; Patrick Yap; Denis Nyaga; Raoul Heller; Stephen Evans; Kate Strachan; Salam Alburaiky; Han M Alex Nguyen; Sylvie Hermann-Le Denmat; Austen R D Ganley; Justin M O'Sullivan; Frank H Bloomfield
Journal:  Am J Med Genet A       Date:  2021-12-31       Impact factor: 2.578

  1 in total

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