Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

American Journal of Medical Genetics, Part A

Volumn 164, Issue 9, 2014, Pages 2240-2249

  Gripp, Karen W ^a   Curry, Cynthia ^b   Olney, Ann Haskins ^c   Sandoval, Claudio ^d   Fisher, Jamie ^e   Chong, Jessica Xiao Ling ^f   Pilchman, Lisa ^a   Sahraoui, Rebecca ^a   Stabley, Deborah L ^a   Sol Church, Katia ^a  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^d NEW YORK MEDICAL COLLEGE   (United States)

^e Genetic Medicine Central California   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Cleft palate; Diamond Blackfan anemia; Macrocytic anemia; Microtia; Ribosomopathy; RPS26; RPS28; Treacher Collins syndrome; TSR2

Indexed keywords

DNA; HEMOGLOBIN F; MESSENGER RNA; PREDNISONE; STEROID; TRANSCRIPTION FACTOR GATA 1; APOPTOSIS REGULATORY PROTEIN; RIBOSOME PROTEIN; RPS28 PROTEIN, HUMAN; TSR2 PROTEIN, HUMAN;

ADULT; ARTICLE; BLACKFAN DIAMOND ANEMIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CRYPTORCHISM; DBA10 GENE; DNA SEQUENCE; DRUG WITHDRAWAL; ERYTHROCYTE TRANSFUSION; EXOME; FACE DYSMORPHIA; FEMALE; GATA1 GENE; GENE; GENE MUTATION; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GENOME ANALYSIS; HEARING AID; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; LANGUAGE DELAY; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHIA; MISSENSE MUTATION; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; RPS26 GENE; RPS28 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; START CODON; TREATMENT OUTCOME; TSR2 GENE; CASE REPORT; COMPLICATION; FAMILY; GENETICS; NEWBORN; PEDIGREE; PREGNANCY; YOUNG ADULT;

ADULT; ANEMIA, DIAMOND-BLACKFAN; APOPTOSIS REGULATORY PROTEINS; CHILD, PRESCHOOL; EXOME; FAMILY; FEMALE; GENETIC HETEROGENEITY; HUMANS; INFANT; INFANT, NEWBORN; MALE; MANDIBULOFACIAL DYSOSTOSIS; PEDIGREE; PHENOTYPE; PREGNANCY; RIBOSOMAL PROTEINS; YOUNG ADULT;

EID: 84905919298     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36633     Document Type: Article

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