Prof. Nirmala Sirisena
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
| Sirisena UND, McElreavey K, Bashamboo A, de Silva KSH, Jayasekara RW, Dissanayake VHW. 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. University of Colombo Research Symposium 2014, November 20-21, 2014, Colombo. Sri Lanka. (Abstracted in the Proceedings of the Conference, p.197). |
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