Child with a novel homozygous mutation in the Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene presenting with ambiguous genitalia, cranio-facial dysmorphism and multiple congenital malformations

U.N.D.Sirisena,K.McElreavey, A.Bashamboo, K.S.H. de Silva, R.W. Jayasekara, V.H.W. Dissanayake.
P.154
Publication year: 2014

Child with a novel homozygous mutation in the Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene presenting with ambiguous genitalia, cranio-facial dysmorphism and multiple congenital malformations. Proceedings of the Annual research Symposium 2014, University of Colombo, November 20th -21st 2014. P.154