Cole-carpenter syndrome is caused by a heterozygous missense mutation in P4HB

American Journal of Human Genetics

Volumn 96, Issue 3, 2015, Pages 425-431

  Rauch, Frank ^a   Fahiminiya, Somayyeh ^b   Majewski, Jacek ^b   Carrot Zhang, Jian ^b   Boudko, Sergei ^c   Glorieux, Francis ^a   Mort, John S ^a   Bächinger, Hans Peter ^c   Moffatt, Pierre ^a  

^a SHRINERS HOSPITAL FOR CHILDREN   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; GENOMIC DNA; PAMIDRONIC ACID; PROTEIN DISULFIDE ISOMERASE; P4HB PROTEIN, HUMAN; PROCOLLAGEN PROLINE 2 OXOGLUTARATE 4 DIOXYGENASE;

ARTICLE; BONE FRAGILITY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; COLE CARPENTER SYNDROME; ENDOPLASMIC RETICULUM STRESS; ENZYME ACTIVITY; EXOME; EXON; GENE; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; P4HB GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST; CRANIOFACIAL SYNOSTOSIS; DNA SEQUENCE; EYE MALFORMATION; FEMALE; GENE FREQUENCY; GENETICS; HYDROCEPHALUS; METABOLISM; OSTEOGENESIS IMPERFECTA; PEDIGREE; PROTEIN CONFORMATION; PROTEIN FOLDING;

CHILD, PRESCHOOL; CRANIOSYNOSTOSES; EYE ABNORMALITIES; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HUMANS; HYDROCEPHALUS; INFANT; MALE; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; PEDIGREE; PROCOLLAGEN-PROLINE DIOXYGENASE; PROTEIN CONFORMATION; PROTEIN DISULFIDE-ISOMERASES; PROTEIN FOLDING; SEQUENCE ANALYSIS, DNA;

EID: 84924272957     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.12.027     Document Type: Article

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