Literature DB >> 22561843

Spondylocarpotarsal synostosis with hydromyelia, mega cisterna magna, and pachydermoperiostosis.

Muhammad Zaman Khan Assir1, Tariq Waseem.   

Abstract

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Year:  2012        PMID: 22561843     DOI: 10.1097/MCD.0b013e3283543224

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


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  2 in total

1.  Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

Authors:  Raphael Carapito; Alice Goldenberg; Nicodème Paul; Angélique Pichot; Albert David; Antoine Hamel; Clémentine Dumant-Forest; Julien Leroux; Benjamin Ory; Bertrand Isidor; Seiamak Bahram
Journal:  Eur J Hum Genet       Date:  2016-07-06       Impact factor: 4.246

2.  Study of non-syndromic thumb aplasia in six independent cases.

Authors:  Hafiza Fizzah Riaz; Karmoon Lal; Bashir Ahmad; Muhammad Shuaib; Syeda Farwa Naqvi; Sajid Malik
Journal:  Pak J Med Sci       Date:  2014-05       Impact factor: 1.088

  2 in total

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