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A Novel Loss-of-Function Mutation in HOXB1Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Autor: Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Kalantar, Seyed M., Jaafarinia, Mojtaba, Chilton, John, Dehghani, Mohammadreza

Publikováno v: Molecular Syndromology; August 2017, Vol. 8 Issue: 5 p261-265, 5p

A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.

Autor: Vahidi Mehrjardi MY; Department of Genetics, Marvdasht Branch, Azad University, Marvdasht., Maroofian R; Wellcome Wolfson Medical Research Centre, University of Exeter Medical School, Exeter, UK., Kalantar SM; Reproductive and Genetic Unit, Yazd Research and Clinical Center for Infertility, Yazd, Iran., Jaafarinia M; Department of Genetics, Marvdasht Branch, Azad University, Marvdasht., Chilton J; Wellcome Wolfson Medical Research Centre, University of Exeter Medical School, Exeter, UK., Dehghani M; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Publikováno v: Molecular syndromology [Mol Syndromol] 2017 Aug; Vol. 8 (5), pp. 261-265. Date of Electronic Publication: 2017 Jun 28.