Literature DB >> 8723073

Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria.

M A Sabry, T I Farag.   

Abstract

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Year:  1996        PMID： 8723073     DOI： 10.1002/ajmg.1320620403

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  3 in total

1.  A case of acheiria.

Authors:  Ali Al-Smair; Abdel Rahman M Jaber; Mohammad H Abu-Suailiek; Taghleb Al-Awad; Ahmad Saadeh
Journal:  Radiol Case Rep       Date:  2022-09-30

2.  Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

Authors:  Annmarie Hempel; Alistair T Pagnamenta; Moira Blyth; Sahar Mansour; Vivienne McConnell; Ikuyo Kou; Shiro Ikegawa; Yoshinori Tsurusaki; Naomichi Matsumoto; Adriana Lo-Castro; Ghislaine Plessis; Beate Albrecht; Agatino Battaglia; Jenny C Taylor; Malcolm F Howard; David Keays; Aman Singh Sohal; Susanne J Kühl; Usha Kini; Alisdair McNeill
Journal:  J Med Genet       Date:  2015-11-05       Impact factor: 6.318

3.  Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

Authors:  Karen W Gripp; Sarah F Smithson; Ingrid J Scurr; Julia Baptista; Anirban Majumdar; Germaine Pierre; Maggie Williams; Lindsay B Henderson; Ingrid M Wentzensen; Heather McLaughlin; Lisette Leeuwen; Marleen E H Simon; Ellen van Binsbergen; Mary Beth P Dinulos; Julie D Kaplan; Anne McRae; Andrea Superti-Furga; Jean-Marc Good; Kerstin Kutsche
Journal:  Eur J Hum Genet       Date:  2021-02-16       Impact factor: 4.246
  3 in total

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