Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation

por Nagaputra, Jerry C., Koh, Mark J.A., Brett, Maggie, Lim, Eileen C.P., Lim, Hwee-Woon, Tan, Ene-Choo
Publicado 2018

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

por Lim, Eileen C. P., Brett, Maggie, Lai, Angeline H. M., Lee, Siew-Peng, Tan, Ee-Shien, Jamuar, Saumya S., Ng, Ivy S. L., Tan, Ene-Choo
Publicado 2015