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Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2003 May 15; Vol. 119A (1), pp. 81-4. - Publication Year :
- 2003
- Subjects :
- Humans
Infant
Limb Deformities, Congenital physiopathology
Male
Pelvic Bones diagnostic imaging
Pelvic Bones pathology
Radiography
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor metabolism
Spine diagnostic imaging
Spine pathology
Amino Acid Substitution
Bone and Bones abnormalities
Limb Deformities, Congenital genetics
Protein-Tyrosine Kinases
Receptors, Fibroblast Growth Factor genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4825
- Volume :
- 119A
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Report
- Accession number :
- 12707965
- Full Text :
- https://doi.org/10.1002/ajmg.a.10238