Agneta Nordenskjöld Group

Agneta Nordenskjöld Group

Two percent of all newborns have a congenital malformation. The parents often ask why this has happened, how it is treated, if there is a recurrence risk and what will happen in the future.

We study the molecular background of congenital malformations, especially disorders of sex development (hypospadias, uncertain sex at birth) and bladder exstrophy, when the child is born with an open urinary bladder. If the molecular diagnosis is determined the information about the child to the parents can be much better concerned further follow-up, prognosis and recurrence risk in the family. We also perform long-term follow up of adults that have been operated for these malformations and perform national register-based studies.

Our projects concerns:

  • Molecular studies on DNA from families, mutation analysis of candidate genes in sporadic cases and families, arrayCGH and exome sequencing.
  • Clinical follow-up of adults with these diagnoses.
  • Register based studies on a national basis in order to identify different aspects of living with these diagnoses.

All results from these studies can easily directly be implemented in clinical practise.




If you would like to support this area of research

you could do that by using Swish transfer. 

Our Swish number is 123-245 79 76


Always state the name of group/team leader in order for us to allocate the gift properly. 

Or you can also use the following accounts:

BG: 628-4418
PG: 514114-8

Always state the name of group/team leader in order for us to allocate the gift properly. 

If you are outside of Sweden, please use the following information:

Bank: SEB, Stockholm, Sweden
Account No. 5201-11 370 12
Iban-number: SE16 5000 0000 0520 1113 7012
Bic-code (the bank´s electronic address): ESSESESS
Account holder: Center for Molecular Medicine Foundation
L8:05, Karolinska University Hospital
171 76 Stockholm, Sweden


Group leader

Agneta Nordenskjöld


Job title

Professor, senior physician


BioClinicum J10:20



Developmental biology and reproduction, Genomics


Congenital Malformations


Child, Clinical gentics, Clinical management, Developmental biology, Gender, Gene expression, Hormones, Molecular, Mutation, Pediatrics, Sequencing, Translational