Results 131 to 140 of about 1,239 (147)

Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia

Acta Paediatrica, International Journal of Paediatrics, 2000
Hypochondroplasia is characterized by a disproportionate short stature with rhizomelic shortening of the limbs. Amino acid substitutions Asn540Lys, Asn540Thr and Ile538Val in the fibroblast growth factor receptor 3 (FGFR3) are considered to cause ...
Giedre Grigelioniene
exaly   +2 more sources

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Hypochondroplasia: Clinical and Radiological Aspects in 39 cases

Radiology, 1979
Jürgen Spranger, Bryan D Hall, B D Hall
exaly  

Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association

Clinical Genetics, 1998
Brad Angle, Joseph H Hersh
exaly  

Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia

Bone and Joint Journal, 2014
Naoki Ishiguro
exaly  

Comparison of clinical-radiological and molecular findings in hypochondroplasia

American Journal of Medical Genetics, Part A, 1998
Paola Carrera, Giovanna Weber, Stefano Mora   +2 more
exaly  

New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia†‡

American Journal of Medical Genetics, Part A, 2012
Sang-Gyun Kim, Hae-Ryong Song, Sang-Heon Song   +2 more
exaly  

A novel missense mutation of in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing

Clinica Chimica Acta, 2013
Zhangzhang Lan, Weiqing Wu
exaly  

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia

American Journal of Medical Genetics, Part A, 1995
Petros Tsipouras, Michael W Kilpatrick
exaly  

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype

American Journal of Medical Genetics, Part A, 2001
Pierpaolo Mastroiacovo, Daniela Concolino, G Camera   +2 more
exaly  

Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation

Pediatric Radiology, 2013
Peter Kannu, Charles Raybaud, Elysa Widjaja   +2 more
exaly