Identification of the First ATRIP-Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR-ATRIP Seckel Syndrome

PLoS Genetics

Volumn 8, Issue 11, 2012, Pages

  Ogi, Tomoo ^a   Walker, Sarah ^b   Stiff, Tom ^b   Hobson, Emma ^c   Limsirichaikul, Siripan ^a,g   Carpenter, Gillian ^b   Prescott, Katrina ^c   Suri, Mohnish ^d   Byrd, Philip J ^e   Matsuse, Michiko ^a   Mitsutake, Norisato ^a   Nakazawa, Yuka ^a   Vasudevan, Pradeep ^f   Barrow, Margaret ^f   Stewart, Grant S ^e   Taylor, A Malcolm R ^e   O'Driscoll, Mark ^b   Jeggo, Penny A ^b  

^a NAGASAKI UNIVERSITY   (Japan)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

^c CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^d NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^e UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^f LEICESTER ROYAL INFIRMARY   (United Kingdom)

^g SILPAKORN UNIVERSITY   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

ATR INTERACTING PROTEIN; ATR PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; ATAXIA TELANGIECTASIA AND RAD3 RELATED GENE; ATAXIA TELANGIECTASIA AND RAD3 RELATED INTERACTING PROTEIN GENE; BONE MALFORMATION; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DENTAL CROWDING; DNA DAMAGE; FACE DYSMORPHIA; G2 PHASE CELL CYCLE CHECKPOINT; GENE; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE MUTATION; GROWTH DISORDER; HETEROZYGOSITY; HUMAN; HUMAN CELL; MICROCEPHALY; MICROGNATHIA; MICROTIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SECKEL SYNDROME; SEQUENCE ANALYSIS; TOOTH MALFORMATION; UNITED KINGDOM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CELL CYCLE PROTEINS; CODON, NONSENSE; DNA-BINDING PROTEINS; DWARFISM; EAR; FEMALE; FETAL GROWTH RETARDATION; GENE EXPRESSION REGULATION; GROWTH DISORDERS; HETEROZYGOTE; HUMANS; MALE; MICROCEPHALY; MICROGNATHISM; OSTEOCHONDRODYSPLASIAS; PATELLA; PROTEIN-SERINE-THREONINE KINASES; RNA SPLICING; SIGNAL TRANSDUCTION;

ATAXIA TELANGIECTASIA;

EID: 84870657902     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002945     Document Type: Article

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