Literature DB >> 28090630

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.

N Chatron1,2, G Lesca1,2, A Labalme1, P A Rollat-Farnier1, P Monin1, E Pichot3, P Edery1,2, D Sanlaville1,2, M Rossi1,2.   

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Year:  2017        PMID： 28090630     DOI： 10.1111/cge.12907

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

Review 1.  Sfrp4 and the Biology of Cortical Bone.

Authors:  Ruiying Chen; Roland Baron; Francesca Gori
Journal:  Curr Osteoporos Rep       Date:  2022-02-19       Impact factor: 5.163

2.  The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.

Authors:  Anna Sowińska-Seidler; Paweł Sztromwasser; Katarzyna Zawadzka; Dawid Sielski; Ewelina Bukowska-Olech; Paweł Zawadzki; Kazimierz Kozłowski; Aleksander Jamsheer
Journal:  Front Genet       Date:  2020-10-23       Impact factor: 4.599
  2 in total

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