Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder

Journal of Pediatrics

Volumn 162, Issue 1, 2013, Pages

  Dauber, Andrew ^a,b   Stoler, Joan ^a   Hechter, Eliana ^b   Safer, Jason ^a   Hirschhorn, Joel N ^a,b,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

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

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 M SYNDROME; ADOLESCENT; ARTICLE; BODY DYSMORPHIC DISORDER; CASE REPORT; CONTROLLED STUDY; DENTITION; EXOME; FEEDING DISORDER; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; GROWTH DISORDER; HEAD CIRCUMFERENCE; HUMAN; INGUINAL HERNIA; MALE; OTITIS MEDIA; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; TESTIS DISEASE; TONSILLECTOMY; TYMPANOSTOMY TUBE;

EID: 84871393449     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2012.07.055     Document Type: Article

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