Mutations in SCARF2 are responsible for van Den Ende-Gupta syndrome

American Journal of Human Genetics

Volumn 87, Issue 4, 2010, Pages 553-559

  Anastasio, Natascia ^a   Ben Omran, Tawfeg ^b,c   Teebi, Ahmad ^c   Ha, Kevin C H ^a   Lalonde, Emilie ^a   Ali, Rehab ^b   Almureikhi, Mariam ^b   Der Kaloustian, Vazken M ^a   Liu, Junhui ^a   Rosenblatt, David S ^a   Majewski, Jacek ^a   Jerome Majewska, Loydie A ^a  

^a MCGILL UNIVERSITY   (Canada)

^b HAMAD MEDICAL CORPORATION   (Qatar)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SCARF2 PROTEIN; SCAVENGER RECEPTOR F; UNCLASSIFIED DRUG; SCARF2 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEPHAROPHIMOSIS; CAMPTODACTYLY; CASE REPORT; CHROMOSOME 22Q; CONSANGUINITY; CONTROLLED STUDY; EXON; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; MAXILLA HYPOPLASIA; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; QATAR; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; VAN DEN ENDE GUPTA SYNDROME; AMINO ACID SEQUENCE; CHROMOSOME 22; DNA SEQUENCE; ETHNIC GROUP; FEMALE; GENETICS; MALE; METABOLISM; MICROARRAY ANALYSIS; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; MUSCULOSKELETAL SYSTEM MALFORMATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RECESSIVE GENE; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; BLEPHAROPHIMOSIS; CHROMOSOMES, HUMAN, PAIR 22; ETHNIC GROUPS; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MICROARRAY ANALYSIS; MOLECULAR SEQUENCE DATA; MUSCULOSKELETAL ABNORMALITIES; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; QATAR; SCAVENGER RECEPTORS, CLASS F; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 77957750362     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.09.005     Document Type: Article

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