Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient
Am J Med Genet A
.
2023 Aug;191(8):2240-2244.
doi: 10.1002/ajmg.a.63227.
Epub 2023 May 2.
Authors
Mariana Del Pino
1
,
Victoria Huckstadt
2
,
Francisca Diaz-Gonzalez
3
4
,
Maria Gabriela Obregon
2
,
Karen E Heath
3
4
5
,
Virginia Fano
1
Affiliations
1
Growth and Development, Hospital Garrahan, Buenos Aires, Argentina.
2
Genetics Department, Hospital Garrahan, Buenos Aires, Argentina.
3
Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, UAM, IdiPAZ, Madrid, Spain.
4
Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), Hospital Universitario La Paz, UAM, Madrid, Spain.
5
CIBERER, ISCIII, Madrid, Spain.
PMID:
37128991
DOI:
10.1002/ajmg.a.63227
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
MeSH terms
Humans
Mutation
Radiography
Receptor, Fibroblast Growth Factor, Type 3* / genetics
Substances
Receptor, Fibroblast Growth Factor, Type 3
FGFR3 protein, human