Literature DB >> 18978656

Cenani-Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report.

Hisham Jarbhou1, Hanan Hamamy, Azmy Al-Hadidy, Kamel Ajlouni.   

Abstract

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Year:  2008        PMID： 18978656     DOI： 10.1097/MCD.0b013e328306a6ed

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


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  4 in total

1.  LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Authors:  Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hülya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Pete Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
Journal:  Am J Hum Genet       Date:  2010-04-08       Impact factor: 11.025

2.  Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Authors:  Rivka Sukenik Halevy; Huan-Chieh Chien; Bo Heinz; Michael J Bamshad; Deborah A Nickerson; Martin Kircher; Nadav Ahituv
Journal:  Hum Mutat       Date:  2018-03-22       Impact factor: 4.878

3.  Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Authors:  Dineshani Hettiaracchchi; Carine Bonnard; S M A Jayawardana; Alvin Yu Jin Ng; Sumanty Tohari; Byrappa Venkatesh; Bruno Reversade; Roshni Singaraja; V H W Dissanayake
Journal:  BMC Med Genet       Date:  2018-07-24       Impact factor: 2.103

4.  Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report.

Authors:  Niranjalee Samanthika Egodawaththe; Sumudu Nimali Seneviratne; Suvini Gunasekara; Sathika Manori Amarasekara; Kumudu Weerasekara
Journal:  J Med Case Rep       Date:  2020-09-16
  4 in total

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