Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.
Houweling
Arjan C
AC
Department of Clinical Genetics and Human Genetics, VU University Medical Center, ACTA, Amsterdam, The Netherlands. a.houweling@vumc.nl
Gille
Johan J P
JJ
Baart
Jacques A
JA
van Hagen
Johanna M
JM
Lachmeijer
Augusta M
AM
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
C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors