Associated Papers
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A et al.
Orphanet Journal of Rare Diseases, 2022
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Castilla-Vallmanya L et al.
International Journal of Molecular Sciences, 2021
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.
Fernandes PH et al.
Genetic Testing and Molecular Biomarkers, 2010
Novel PORCN mutations in focal dermal hypoplasia.
Froyen G et al.
Clinical Genetics, 2009
Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
Maas SM et al.
Journal of Medical Genetics, 2009
PORCN mutations in focal dermal hypoplasia: coping with lethality.
Bornholdt D et al.
Human Mutation, 2009
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