Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature

Importance ofPORCNand Wnt signaling pathways in embryogenesis

(2009) Suzanne E. Clements   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PORCNgene mutations and the protean nature of focal dermal hypoplasia

(2009) S.E. Clements et al.   BRITISH JOURNAL OF DERMATOLOGY

NovelPORCNmutations in focal dermal hypoplasia

(2009) G Froyen et al.   CLINICAL GENETICS

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

(2009) May-Britt Harmsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PORCNmutations in focal dermal hypoplasia: coping with lethality

(2009) Dorothea Bornholdt et al.   HUMAN MUTATION

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

(2009) S M Maas et al.   JOURNAL OF MEDICAL GENETICS

Trisomy 18 Syndrome with Incomplete Cantrell Syndrome

(2008) Yi-Jen Hou et al.   Pediatrics and Neonatology