A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient

PORCNgene mutations and the protean nature of focal dermal hypoplasia

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

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

(2009) P Leoyklang et al.   CLINICAL GENETICS

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

Goltz syndrome in a moderately affected newborn boy

(2009) Megha M. Tollefson et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

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

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene

(2007) Suzanne E. Clements et al.   JOURNAL OF DERMATOLOGICAL SCIENCE