Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilinâ1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report
Prenatal Diagnosis | September 11, 2002 | Volume: 20 | Issue: 13 | Pages: 1055-1062
10.1002/1097-0223(200012)20:13<1055::aid-pd978>3.0.co;2-#
| PMID 11180229