Novel mutation in a child with Goltz syndrome.


Goltz syndrome or focal dermal hypoplasia is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. The authors report a female child clinically diagnosed as Goltz syndrome, confirmed to have a novel splice site mutation IVS2 + 1G > A of PORCN gene. Review of the 80 or so pathogenic… (More)
DOI: 10.1007/s12098-011-0513-y


Cite this paper

@article{Kapoor2012NovelMI, title={Novel mutation in a child with Goltz syndrome.}, author={Seema Kapoor and V Indradeep Ghosh and John A Mcgrath and Atul Mohan Kochar and Harit Kapoor and Reetika Malik}, journal={Indian journal of pediatrics}, year={2012}, volume={79 1}, pages={120-3} }