Results 141 to 147 of about 1,239 (147)

Does the Co-occurrence of FGFR3 Gene Mutation in Hypochondroplasia, Medial Temporal Lobe Dysgenesis, and Focal Epilepsy Suggest a Syndrome?

Pediatric Neurology, 2014
Antonino Romeo, Eliana Parente, Donatella Milani   +2 more
exaly  

Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

American Journal of Medical Genetics, Part A, 1996
J Bonaventure, M le Merrer
exaly  

Criteria for radiologic diagnosis of hypochondroplasia in neonates

Pediatric Radiology, 2016
Jun Murotsuki, Tomonobu Hasegawa, Akihiko Saitoh   +2 more
exaly  

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation†‡

American Journal of Medical Genetics, Part A, 2012
Outi Mäkitie, Sanna Toiviainen-Salo, Tarja Linnankivi   +2 more
exaly  

High specificity of head circumference to recognize N540K mutation in hypochondroplasia

Annals of Human Biology, 2005
Mariana Del Pino, Luis Pablo Gravina, Virginia Fano   +2 more
exaly  

Prenatal diagnosis of hypochondroplasia

Prenatal Diagnosis, 1985
exaly  

Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia Open Access

Journal of Bone and Mineral Research
Florent Barbault, Laurence Legeai-Mallet
exaly