Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Journal of Bone and Mineral Research

Volumn 31, Issue 8, 2016, Pages 1577-1585

  Taylan, Fulya ^a   Costantini, Alice ^a   Coles, Nicole ^b   Pekkinen, Minna ^c   Héon, Elise ^b   Şıklar, Zeynep ^d   Berberoğlu, Merih ^d   Kämpe, Anders ^a   Kıykım, Ertuğrul ^e   Grigelioniene, Giedre ^a,f   Tüysüz, Beyhan ^e   Mäkitie, Outi ^a,c,f,g  

^a KAROLINSKA INSTITUTE   (Sweden)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^d ANKARA UNIVERSITY   (Turkey)

^e ISTANBUL UNIVERSITY   (Turkey)

^f KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^g UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

Author keywords

CATARACT; HEARING LOSS; OSTEOPOROSIS; PLATYSPONDYLY; WHOLE EXOME SEQUENCING

Indexed keywords

2 HYDROXYGLUTARIC ACID; BISPHOSPHONIC ACID DERIVATIVE; PAMIDRONIC ACID; TRANSFERASE; UNCLASSIFIED DRUG; XYLT2 PROTEIN;

ADOLESCENCE; ADOLESCENT; ARM FRACTURE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; BONE DENSITY; BONE DYSPLASIA; BONE RADIOGRAPHY; CATARACT; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; COMPRESSION FRACTURE; CONSANGUINEOUS MARRIAGE; CORNEA; ECHOCARDIOGRAPHY; ECTROPION; EXOME; EYE EXAMINATION; FEMALE; FEMUR SUBTROCHANTERIC FRACTURE; GENE MUTATION; GENE SEQUENCE; GLAUCOMA; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; INTERVERTEBRAL DISK; JOINT LAXITY; KYPHOSIS; LENS; LONG BONE; LUMBAR SPINE; MALE; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; NONSENSE MUTATION; NYSTAGMUS; OPHTHALMOLOGY; OSTEOPENIA; OSTEOPOROSIS; PAIN; PERCEPTION DEAFNESS; PHENOTYPE; PIGEON THORAX; PRESCHOOL CHILD; SCHOOL CHILD; SHORT STATURE; SIBLING; SPINE FRACTURE; SPONDYLOOCULAR SYNDROME; STOP CODON; SUBCAPSULAR CATARACT; TREATMENT RESPONSE; ULNA; ULNA FRACTURE; VISUAL ACUITY; VISUAL IMPAIRMENT;

EID: 84980010318     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2834     Document Type: Article

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