title: Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.
authors.affiliation: Department of Clinical Genetics and Human Genetics, VU University Medical Center, ACTA, Amsterdam, The Netherlands. a.houweling@vumc.nl
authors.forename: Arjan C
authors.initials: AC
authors.lastname: Houweling
authors.forename: Johan J P
authors.initials: JJ
authors.lastname: Gille
authors.forename: Jacques A
authors.initials: JA
authors.lastname: Baart
authors.forename: Johanna M
authors.initials: JM
authors.lastname: van Hagen
authors.forename: Augusta M
authors.initials: AM
authors.lastname: Lachmeijer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D050835:Interferon Regulatory Factors / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D011625:Pterygium / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors