Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects

American Journal of Human Genetics

Volumn 96, Issue 6, 2015, Pages 971-978

  Munns, Craig F ^a   Fahiminiya, Somayyeh ^b   Poudel, Nabin ^c   Munteanu, Maria Cristina ^c   Majewski, Jacek ^b   Sillence, David O ^a   Metcalf, Jordan P ^d   Biggin, Andrew ^a   Glorieux, Francis ^e   Fassier, François ^e   Rauch, Frank ^e   Hinsdale, Myron E ^c,d  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b MCGILL UNIVERSITY   (Canada)

^c OKLAHOMA STATE UNIVERSITY   (United States)

^d UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^e SHRINERS HOSPITAL FOR CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEOHEPARAN SULFATE; SULFATE; TRANSFERASE; UNCLASSIFIED DRUG; XYLOSYLTRANSFERASE 2; BISPHOSPHONIC ACID DERIVATIVE; GLYCOSYLTRANSFERASE; PAMIDRONIC ACID; UDP XYLOSE-PROTEIN XYLOSYLTRANSFERASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DENSITY; BONE FRAGILITY; CASE REPORT; CATARACT; COMPRESSION FRACTURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CRYPTORCHISM; DUAL ENERGY X RAY ABSORPTIOMETRY; DUODENUM ULCER; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXOME; EXON; EYE MALFORMATION; FAMILY STUDY; FEMUR FRACTURE; FIBROBLAST; FRAMESHIFT MUTATION; GENE LOCUS; GENE SEQUENCE; HEARING AID; HEART ATRIUM SEPTUM DEFECT; HEART SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; HUMAN CELL; LEARNING DISORDER; LOW SET EAR; LUMBAR SPINE; LYMPHEDEMA; MALE; MITRAL VALVE PROLAPSE; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; ORCHIDOPEXY; OSTEOPOROSIS; PERCEPTION DEAFNESS; PHENOTYPE; PHYSICAL EXAMINATION; PIGEON THORAX; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RETINA DETACHMENT; SEQUENCE ANALYSIS; SPINE FRACTURE; SPONDYLO OCULAR SYNDROME; STOP CODON; ULTRASOUND; UNSTEADY GAIT; VERTEBRA BODY; VISUAL IMPAIRMENT; WEBBED NECK; BLOOD; CRANIOFACIAL ABNORMALITIES; DNA SEQUENCE; EYE DISEASES, HEREDITARY; GENETICS; HEARING DISORDER; HOMOZYGOTE; IMMUNOHISTOCHEMISTRY; MOLECULAR GENETICS; OSTEOCHONDRODYSPLASIAS; PATHOLOGY; PEDIGREE; RADIOGRAPHY; REAL TIME POLYMERASE CHAIN REACTION; RETINAL DETACHMENT;

BASE SEQUENCE; CATARACT; CRANIOFACIAL ABNORMALITIES; DIPHOSPHONATES; EXOME; EYE DISEASES, HEREDITARY; FRAMESHIFT MUTATION; HEARING DISORDERS; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; OSTEOPOROSIS; PEDIGREE; PENTOSYLTRANSFERASES; REAL-TIME POLYMERASE CHAIN REACTION; RETINAL DETACHMENT; SEQUENCE ANALYSIS, DNA;

EID: 84930616803     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.04.017     Document Type: Article

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