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Volumn 24, Issue 20, 2015, Pages 5845-5854

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ASTHMA; BONE RADIOGRAPHY; CASE REPORT; CHILD; CHONDRODYSPLASIA PUNCTATA; CLINICAL EXAMINATION; CONGENITAL CATARACT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; COXA VARA; DEMYELINATING NEUROPATHY; EPILEPTIC STATE; EXOME; EXON; FACIES; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE LOCATION; GENE LOSS; GROWTH RETARDATION; HUMAN; HUMAN CELL; HYPOREFLEXIA; INFANT; INTELLECTUAL IMPAIRMENT; KERATODERMA; LORDOSIS; MALE; MICROCEPHALY; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEWBORN; PEDIGREE; PERIPHERAL NEUROPATHY; PEX5L GENE; PEX5S GENE; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; REAL TIME POLYMERASE CHAIN REACTION; RECESSIVE INHERITANCE; SCHOOL CHILD; SCOLIOSIS; SENSORIMOTOR NEUROPATHY; SIBLING; SINUS TACHYCARDIA; SPECIAL EDUCATION; DNA SEQUENCE; GENETICS; METABOLISM; PEROXISOME; PROTEIN TRANSPORT;

EID: 84943786040     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv305     Document Type: Article
Times cited : (66)

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