A CASE OF TREACHER COLLINS SYNDROME

Autor: Ulusal S., Gürkan H., Vatansever Ü., Kürkçü K., Tozkir H., Acunaş Ba.

Publikováno v: Balkan Journal of Medical Genetics, Vol 16, Iss 2, Pp 77-80 (2013)

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. He

Externí odkaz: https://doaj.org/article/084a81c9e4b34b4e9e0e69d29ce3dbdf

A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.

Autor: Gürkan H; Departments of aMedical Genetics bPediatrics, Faculty of Medicine, Trakya University, Edirne, Turkey cInstitute of Human Genetics, Freiburg, Germany., Fischer J, Ulusal S, Vatansever Ü, Hartmann B, Tozkır H, Schlipf N, Acunaş BA

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2015 Jul; Vol. 24 (3), pp. 115-7.