A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malfo...

Descripción completa

Detalles Bibliográficos
Autores principales: Noe, Eun Jung, Yoo, Han Wook, Kim, Kwang Nam, Lee, So Yeon
Formato: Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021729/
https://www.ncbi.nlm.nih.gov/pubmed/21253318
http://dx.doi.org/10.3345/kjp.2010.53.12.1022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021729/
https://www.ncbi.nlm.nih.gov/pubmed/21253318
http://dx.doi.org/10.3345/kjp.2010.53.12.1022

Ejemplares similares