title: A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: Ola
authors.initials: O
authors.lastname: Khalifa
authors.forename: Faiqa
authors.initials: F
authors.lastname: Imtiaz
authors.forename: Rabab
authors.initials: R
authors.lastname: Allam
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Al-Hassnan
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Hemidan
authors.forename: Khalid
authors.initials: K
authors.lastname: Al-Mane
authors.forename: Gheid
authors.initials: G
authors.lastname: Abuharb
authors.forename: Ameera
authors.initials: A
authors.lastname: Balobaid
authors.forename: Nadia
authors.initials: N
authors.lastname: Sakati
authors.forename: James
authors.initials: J
authors.lastname: Hyland
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Owain
mesh_terms: D001483:Base Sequence; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002386:Cataract / Q000175:diagnosis* / Q000235:genetics*; D024161:Collagen Type XI / Q000235:genetics* / Q000172:deficiency; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D017422:Sequence Analysis, DNA
chemical_list: C574182:COL11A1 protein, human; D024161:Collagen Type XI