Literature DB >> 8533816

Melorheostosis and somatic mosaicism.

J P Fryns.   

Abstract

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Year:  1995        PMID： 8533816     DOI： 10.1002/ajmg.1320580221

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


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  8 in total

Review 1.  Melorheostosis and a review of the literature in China.

Authors:  Chi Zhang; Wenda Dai; Yi Yang; Qi Tang; Zhenjun Yao
Journal:  Intractable Rare Dis Res       Date:  2013-05

2.  Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Authors:  Michael P Whyte; Malachi Griffith; Lee Trani; Steven Mumm; Gary S Gottesman; William H McAlister; Kilannin Krysiak; Robert Lesurf; Zachary L Skidmore; Katie M Campbell; Ilana S Rosman; Susan Bayliss; Vinieth N Bijanki; Angela Nenninger; Brian A Van Tine; Obi L Griffith; Elaine R Mardis
Journal:  Bone       Date:  2017-04-21       Impact factor: 4.398

3.  Melorheostosis with renal arterio-venous malformation: A case report with review of literature.

Authors:  Abdul Rashid Lone; Mushtaq Ahmad; Sheikh Aejaz Aziz; Gul Mohammad Bhat; Javid Rasool Bhat; Rifat Jahan; Shoukat H Khan
Journal:  Indian J Med Paediatr Oncol       Date:  2009-01

4.  A rare case of melorheostosis of the hand in a pediatric patient.

Authors:  Rolanda A Willacy; James A Clemmons; Ore Oyetan; Ibrahim M Khaleel; Christopher G Salib; Robert H Wilson
Journal:  J Orthop       Date:  2019-06-24

5.  Incidentally diagnosed melorheostosis of upper limb: case report.

Authors:  Vaclav Vyskocil; Karel Koudela; Tomas Pavelka; Kristyna Stajdlova; David Suchy
Journal:  BMC Musculoskelet Disord       Date:  2015-01-31       Impact factor: 2.362

6.  A Unique Case of Melorheostosis Presenting with Two Radiologically Distinct Lesions in the Shoulder.

Authors:  Ahmed A Elsheikh; Rohan S Pinto; Alpesh Mistry; Simon P Frostick
Journal:  Case Rep Orthop       Date:  2017-11-06

7.  Somatic activating mutations in MAP2K1 cause melorheostosis.

Authors:  Heeseog Kang; Smita Jha; Zuoming Deng; Nadja Fratzl-Zelman; Wayne A Cabral; Aleksandra Ivovic; Françoise Meylan; Eric P Hanson; Eileen Lange; James Katz; Paul Roschger; Klaus Klaushofer; Edward W Cowen; Richard M Siegel; Joan C Marini; Timothy Bhattacharyya
Journal:  Nat Commun       Date:  2018-04-11       Impact factor: 14.919

8.  A Highly Unusual Clinical Presentation and Imaging Appearance of a Rare Diseases: Melorheostosis.

Authors:  Amit Kumar Salaria; Gaganpreet Singh; Ekta Dogra; Naveen Kumar; Praveen Sodavarapu; Deepak Neradi
Journal:  J Orthop Case Rep       Date:  2020-09
  8 in total

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