Literature DB >> 20032780

GAPO syndrome: a case associated with bilateral interstitial keratitis and hypothyroidism.

Shaobo Lei1, Srinivas Iyengar, Li Shan, David Hunter Cherwek, Somasheila Murthy, Agnes M F Wong.   

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Year:  2010        PMID: 20032780     DOI: 10.1097/MCD.0b013e32833593d1

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


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  3 in total

1.  Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Authors:  Yavuz Bayram; Davut Pehlivan; Ender Karaca; Tomasz Gambin; Shalini N Jhangiani; Serkan Erdin; Claudia Gonzaga-Jauregui; Wojciech Wiszniewski; Donna Muzny; Nursel H Elcioglu; M Selman Yildirim; Banu Bozkurt; Ayse Gul Zamani; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal:  Am J Med Genet A       Date:  2014-07-14       Impact factor: 2.802

2.  Mutations in ANTXR1 cause GAPO syndrome.

Authors:  Viktor Stránecký; Alexander Hoischen; Hana Hartmannová; Maha S Zaki; Amit Chaudhary; Enrique Zudaire; Lenka Nosková; Veronika Barešová; Anna Přistoupilová; Kateřina Hodaňová; Jana Sovová; Helena Hůlková; Lenka Piherová; Jayne Y Hehir-Kwa; Deepthi de Silva; Manouri P Senanayake; Sameh Farrag; Jiří Zeman; Pavel Martásek; Alice Baxová; Hanan H Afifi; Brad St Croix; Han G Brunner; Samia Temtamy; Stanislav Kmoch
Journal:  Am J Hum Genet       Date:  2013-04-18       Impact factor: 11.025

3.  Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection.

Authors:  Paula R Chen; Raymond R R Rowland; Ana M Stoian; Vlad Petrovan; Maureen Sheahan; Charan Ganta; Giselle Cino-Ozuna; Dae Young Kim; James M Dunleavey; Kristin M Whitworth; Melissa S Samuel; Lee D Spate; Raissa F Cecil; Joshua A Benne; Xingyu Yan; Ying Fang; Brad St Croix; Kelly Lechtenberg; Kevin D Wells; Randall S Prather
Journal:  Sci Rep       Date:  2022-03-23       Impact factor: 4.379

  3 in total

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