Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation
Abstract Background X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Although most of the affected men had mild symptoms, some had more severe sy...
Sparad:
Huvudskapare: | , , , , , , , |
---|---|
Materialtyp: | Bok |
Publicerad: |
BMC,
2019-07-01T00:00:00Z.
|
Ämnen: | |
Länkar: | Connect to this object online. |
Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|
Internet
Connect to this object online.3rd Floor Main Library
Signum: |
A1234.567 |
---|---|
Exemplar 1 | Tillgänglig |