Child with a Homozygous Mutation in the Treacher Collins-Franceschetti Syndrome 1 gene (TCOF1) Presenting with Ambiguous Genitalia, Cranio-facial Dysmorphism and Multiple Congenital Malformations

Nirmala D. Sirisena, Kenneth McElreavey, Anu Bashamboo, K.S.H. de Silva, Rohan W. Jayasekara, Vajira H.W. Dissanayake
Publication year: 2014

Child with a Homozygous Mutation in the Treacher Collins-Franceschetti Syndrome 1 gene (TCOF1) Presenting with Ambiguous Genitalia, Cranio-facial Dysmorphism and Multiple Congenital Malformations. Selected for poster presentation at the European School of Genetic Medicine, 27th Course in Medical Genetics held at Bertinoro, Italy, May 11-15, 2014. Abstracted in the Programme & Abstract Book, p. 42-43.