Literature DB >> 17702012

A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types.

Mihoko Nakamura1, Yukihisa Matsuda, Masaru Higo, Gen Nishimura.   

Abstract

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Year:  2007        PMID: 17702012     DOI: 10.1002/ajmg.a.31888

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


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  3 in total

1.  Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Authors:  Norine Voisin; Rhonda E Schnur; Sofia Douzgou; Susan M Hiatt; Cecilie F Rustad; Natasha J Brown; Dawn L Earl; Boris Keren; Olga Levchenko; Sinje Geuer; Sarah Verheyen; Diana Johnson; Yuri A Zarate; Miroslava Hančárová; David J Amor; E Martina Bebin; Jasmin Blatterer; Alfredo Brusco; Gerarda Cappuccio; Joel Charrow; Nicolas Chatron; Gregory M Cooper; Thomas Courtin; Elena Dadali; Julien Delafontaine; Ennio Del Giudice; Martine Doco; Ganka Douglas; Astrid Eisenkölbl; Tara Funari; Giuliana Giannuzzi; Ursula Gruber-Sedlmayr; Nicolas Guex; Delphine Heron; Øystein L Holla; Anna C E Hurst; Jane Juusola; David Kronn; Alexander Lavrov; Crystle Lee; Séverine Lorrain; Else Merckoll; Anna Mikhaleva; Jennifer Norman; Sylvain Pradervand; Darina Prchalová; Lindsay Rhodes; Victoria R Sanders; Zdeněk Sedláček; Heidelis A Seebacher; Elizabeth A Sellars; Fabio Sirchia; Toshiki Takenouchi; Akemi J Tanaka; Heidi Taska-Tench; Elin Tønne; Kristian Tveten; Giuseppina Vitiello; Markéta Vlčková; Tomoko Uehara; Caroline Nava; Binnaz Yalcin; Kenjiro Kosaki; Dian Donnai; Stefan Mundlos; Nicola Brunetti-Pierri; Wendy K Chung; Alexandre Reymond
Journal:  Am J Hum Genet       Date:  2021-05-06       Impact factor: 11.025

2.  De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.

Authors:  Daisuke Shimizu; Rieko Sakamoto; Kaori Yamoto; Hirotomo Saitsu; Maki Fukami; Gen Nishimura; Tsutomu Ogata
Journal:  J Hum Genet       Date:  2019-08-06       Impact factor: 3.172

3.  Concomitant rhomboid-shaped tibiae and fibulae, finger-like projections, and orthopedic management in a new variant of nievergelt syndrome: A case report.

Authors:  Tuna Pehlivanoğlu; Mehmet Demirel; Yavuz Sağlam; Halil İbrahim Balci; Hayati Durmaz
Journal:  Int J Surg Case Rep       Date:  2017-12-08
  3 in total

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