期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 66, 期 7, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2023.104772
关键词
Autosomal dominant; Craniosynostosis; Coronal suture; Asian-Indian
Autosomal recessive CYP26B1 disorder in Asian-Indian population leads to syndromic craniosynostosis with variable severity and dysplastic radial heads. We suggest the possibility of an autosomal dominant phenotype of CYP26B1 variant.
Autosomal recessive CYP26B1 disorder is characterised by syndromic craniosynostosis of variable severity, and survival ranging from prenatal lethality to survival into adulthood. Here we report on two related individuals of Asian-Indian origin with syndromic craniosynostosis characterised by craniosynostosis, and dysplastic radial heads, caused by monoallelic CYP26B1 likely pathogenic variant NM_019885.4:c.86C > A:p. (Ser29Ter). We propose the possibility of autosomal dominant phenotype of CYP26B1 variant.
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