Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 11, 2012, Pages

  Dauber, Andrew ^a,b   LaFranchi, Stephen H ^c   Maliga, Zoltan ^e   Lui, Julian C ^f   Moon, Jennifer E ^a,b   McDeed, Cailin ^a,g   Henke, Katrin ^a,g   Zonana, Jonathan ^d   Kingman, Garrett A ^a,h   Pers, Tune H ^a,b,i   Baron, Jeffrey ^f   Rosenfeld, Ron G ^c   Hirschhorn, Joel N ^a,b,g   Harris, Matthew P ^a,g   Hwa, Vivian ^c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e MAX PLANCK INSTITUTE OF MOLECULAR CELL BIOLOGY AND GENETICS   (Germany)

^f EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h HARVARD UNIVERSITY   (United States)

ⁱ TECHNICAL UNIVERSITY OF DENMARK   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; GROWTH HORMONE; MEMBRANE PROTEIN; NINEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMENORRHEA; ANIMAL TISSUE; ARTICLE; CASE REPORT; CELL PROLIFERATION; CENTROSOME; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE EXACERBATION; DRUG WITHDRAWAL; DWARFISM; EMBRYO; FEMALE; FIBROBLAST; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOTHYROIDISM; MICROCEPHALIC PRIMORDIAL DWARFISM; MICROCEPHALY; MORPHOGENESIS; NEUROECTODERM; NIN GENE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID FUNCTION TEST; ZEBRA FISH;

ADOLESCENT; CYTOSKELETAL PROTEINS; DWARFISM; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MICROCEPHALY; MUTATION, MISSENSE; NUCLEAR PROTEINS; YOUNG ADULT;

DANIO RERIO;

EID: 84868623622     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-2150     Document Type: Article

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