SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

David A Parry, Clare V Logan, Alexander P. A. Stegmann, Zakia A Abdelhamed, Alistair Calder, Shabana Khan, David T. Bonthron, Virginia E. Clowes, Eamonn Sheridan, Neeti Ghali, Albert E. Chudley, Angus Dobbie, Constance T. R. M. Stumpel, Colin A Johnson

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1135-1142
JournalAmerican Journal of Human Genetics
Volume93
Issue number6
DOIs
Publication statusPublished - 5 Dec 2013

Cite this

Parry, D. A., Logan, C. V., Stegmann, A. P. A., Abdelhamed, Z. A., Calder, A., Khan, S., Bonthron, D. T., Clowes, V. E., Sheridan, E., Ghali, N., Chudley, A. E., Dobbie, A., Stumpel, C. T. R. M., & Johnson, C. A. (2013). SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid. American Journal of Human Genetics, 93(6), 1135-1142. https://doi.org/10.1016/j.ajhg.2013.10.027