Clinical utility gene card for: 3M syndrome

European Journal of Human Genetics

Volumn 19, Issue 9, 2011, Pages 1016-

  Holder Espinasse, Muriel ^a   Irving, Melita ^b   Cormier Daire, Valérie ^c  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b GUY S HOSPITAL   (United Kingdom)

^c UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; SOMATOMEDIN; CUL7 PROTEIN, HUMAN; CULLIN; CYTOSKELETON PROTEIN; OBSL1 PROTEIN, HUMAN;

ANALYTIC METHOD; ARTICLE; DYSPLASIA; GENE; GENE MUTATION; GENOTYPE; GROWTH RETARDATION; HUMAN; INCIDENCE; MULIBREY NANISM; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SENSITIVITY AND SPECIFICITY; SILVER RUSSELL SYNDROME; SYNDROME 3 M; CONGENITAL MALFORMATION; DWARFISM; GENETICS; INTELLECTUAL IMPAIRMENT; MUSCLE HYPOTONIA; SPINE;

CULLIN PROTEINS; CYTOSKELETAL PROTEINS; DWARFISM; HUMANS; INTELLECTUAL DISABILITY; MUSCLE HYPOTONIA; SENSITIVITY AND SPECIFICITY; SPINE;

EID: 80052036111     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.32     Document Type: Article

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