Acondrogénesis tipo IA: reporte de caso
Acosta Guio, Johanna Carolina; Olaya, Mercedes; Zarante, Ignacio Manuel.
Rev. colomb. radiol
; 22(2): 3189-3192, mar. 2011.
Artículo en Español | LILACS | ID: lil-619376
Documentos relacionados
Diagnosis of thanatophoric dysplasia using clinical exome screening.
The respiratory elastance ratio in thanatophoric dysplasia: A case report.
Thanatophoric dysplasia: A brief neuropathological review.
Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report.
Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes.
Fetal autopsy for the diagnosis of skeletal dysplasia and comparison with prenatal ultrasound findings over a 16-year period.
<i>De novo</i> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.
Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.
Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.