Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

JAMA DERMATOLOGY

AMER MEDICAL ASSOC

1. UK National Institute for Health Research (NIHR) comprehensive Biomedical Research Centre (BRC)
2. King's College London
3. King's College Hospital NHS Foundation Trust