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Article

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.

AJNR. American journal of neuroradiology - 1 Feb 2018

Manikkam S A, Chetcuti K, Howell K B, Savarirayan R, Fink A M, Mandelstam S A

Abstract excerpt

Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the fibroblast growth factor receptor 3 (FGFR3) group of genetic skeletal disorders. Temporal lobe abnormalities have been documented in thanatophoric dysplasia and hypochondroplasia, and in 1 case of achondroplasia. We retrospectively identified 13 children with achondroplasia who underwent MR imaging of the brain between 2002 and 2015. All...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29170271
DOI: 10.3174/ajnr.A5468
PMCID: PMC7410599

Genes

FGFR3

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