Expanding the phenotype of mutations in DICER1: Mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome

Journal of Medical Genetics

Volumn 51, Issue 5, 2014, Pages 294-302

  Klein, Steven ^a   Lee, Hane ^a   Ghahremani, Shahnaz ^a   Kempert, Pamela ^a   Ischander, Mariam ^a,b   Teitell, Michael A ^a   Nelson, Stanley F ^a   Martinez Agosto, Julian A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; MICRORNA; MITOGEN ACTIVATED PROTEIN KINASE; RIBONUCLEASE III; RIBONUCLEASE IIIB; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; DEAD BOX PROTEIN; DICER1 PROTEIN, HUMAN;

ALLELE; ARTICLE; BIOINFORMATICS; CASE REPORT; CONTROLLED STUDY; DICER1 GENE; EXOME; GENE; GENE OVEREXPRESSION; GENE SEQUENCE; GENE TARGETING; GLOBAL DEVELOPMENTAL DELAY LUNG CYST OVERGROWTH AND WILM TUMOR; HUMAN; INFANT; LUNG CYST; MALE; METAL BINDING; MISSENSE MUTATION; MOSAICISM; MURINAE; NEPHROBLASTOMA; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; PYROSEQUENCING; AMINO ACID SEQUENCE; CYST; DEVELOPMENTAL DISORDER; FEMALE; GENETICS; HETEROZYGOSITY LOSS; LUNG DISEASE; METABOLISM; MOLECULAR GENETICS; PREGNANCY; PROTEIN TERTIARY STRUCTURE; SYNDROME;

MURINAE;

AMINO ACID SEQUENCE; CYSTS; DEAD-BOX RNA HELICASES; DEVELOPMENTAL DISABILITIES; FEMALE; HUMANS; INFANT; LOSS OF HETEROZYGOSITY; LUNG DISEASES; MALE; MICRORNAS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PREGNANCY; PROTEIN STRUCTURE, TERTIARY; RIBONUCLEASE III; SYNDROME; WILMS TUMOR;

EID: 84899474027     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101943     Document Type: Article

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