Literature DB >> 19449425

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.

Gareth Baynam1, Jack Goldblatt, Lyn Schofield.   

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Year:  2009        PMID： 19449425     DOI： 10.1002/ajmg.a.32875

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


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  3 in total

Review 1.  Genetics and mechanisms of crystal deposition in calcium pyrophosphate deposition disease.

Authors:  Florence W L Tsui
Journal:  Curr Rheumatol Rep       Date:  2012-04       Impact factor: 4.592

2.  Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia.

Authors:  Jacopo C DiFrancesco; Giuseppe Isimbaldi; Maria Francesca Bedeschi; Barbara Castellotti
Journal:  BMJ Case Rep       Date:  2018-02-14

Review 3.  Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.

Authors:  Taha Faruqi; Naveen Dhawan; Jaya Bahl; Vineet Gupta; Shivani Vohra; Khin Tu; Samir M Abdelmagid
Journal:  Biomed Res Int       Date:  2014-10-22       Impact factor: 3.411
  3 in total

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