Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 1, 2010, Pages 258-263

  Xin, Baozhong ^a   Puffenberger, Erik G ^b,c   Turben, Susan ^a   Tan, Haiyan ^d   Zhou, Aimin ^d   Wang, Heng ^a,e,f  

^a DDC Clinic for Special Needs Children   (United States)

^b CLINIC FOR SPECIAL CHILDREN   (United States)

^c FRANKLIN AND MARSHALL COLLEGE   (United States)

^d CLEVELAND STATE UNIVERSITY   (United States)

^e CASE WESTERN RESERVE UNIVERSITY   (United States)

^f LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Amish; Genotyping and mapping; Homozygosity; Snp arrays; Transmembrane and coiled coil domains 1 gene

Indexed keywords

AMINO ACID; GENE PRODUCT; PROTEIN; RNA; TRANSMEMBRANE AND COILED COIL DOMAIN 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; BONE MALFORMATION; BRACHYCEPHALY; CHILD; CHROMOSOME 1Q; CHROMOSOME 3Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DECIDUOUS TOOTH; EYEBROW; EYELASH; FEMALE; FETUS (ANATOMY); FLATFOOT; FRAMESHIFT MUTATION; FUNNEL CHEST; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GINGIVA HYPERPLASIA; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LOW SET EAR; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCAPULA; SCHOOL CHILD; SKELETON MALFORMATION; SKULL MALFORMATION; SPINE FUSION; TMCO1 DEFECT SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; FEMALE; FETUS; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; MALE; MEMBRANE PROTEINS; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUSCULOSKELETAL ABNORMALITIES; NEUROPSYCHOLOGICAL TESTS; OHIO; PEDIGREE; PHENOTYPE; PREGNANCY; SYNDROME; TOOTH ABNORMALITIES; YOUNG ADULT;

EUKARYOTA;

EID: 76249110211     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0908457107     Document Type: Article

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