Novel <scp>FGF9</scp> variant contributes to multiple synostoses syndrome 3-Reference-Cited by-同舟云学术

Novel FGF9 variant contributes to multiple synostoses syndrome 3

Published:2022-03-22 Issue:7 Volume:188 Page:2162-2167
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Dobson Stephanie M.¹,Kiss Courtney²,Borschneck Daniel³,Heath Karen E.⁴⁵⁶,Gross Adrian⁷,Glucksman Marc J.,Guerin Andrea²^ORCID

Affiliation:

1. Queen's Medical School Queen's University Kingston Ontario Canada

2. Division of Medical Genetics, Department of Pediatrics Queen's University Kingston Ontario Canada

3. Department of Surgery Queen's University Kingston Ontario Canada

4. Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ Universidad de Madrid Madrid Spain

5. Skeletal dysplasia multidisciplinary Unit and ERN‐BOND Hospital Universitario La Paz Madrid Spain

6. CIBERER, ISCIII Madrid Spain

7. Center for Proteomics and Molecular Therapeutics, Department of Biochemistry and Molecular Biology, Chicago Medical School Rosalind Franklin University of Medicine and Science North Chicago Illinois USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62729

Reference21 articles.

1. GDF5 Is a Second Locus for Multiple-Synostosis Syndrome

2. Effects of FGF-2/-9 in calvarial bone cell cultures: differentiation stage-dependent mitogenic effect, inverse regulation of BMP-2 and noggin, and enhancement of osteogenic potential

3. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

4. FGF9 monomer–dimer equilibrium regulates extracellular matrix affinity and tissue diffusion

5. Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

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