Clinical utility gene card for: Deletion 22q13 syndrome

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 492-

  Phelan, Katy ^a   Betancur, Catalina ^b,c,d  

^a Molecular Pathology Laboratory Network Inc   (United States)

^b INSERM   (France)

^c Groupe Enzymologie Moléculaire et Fonctionnelle   (France)

^d SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 22; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q13; CLINICAL UTILITY GENE CARD; CYTOGENETICS; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE; GENE LOCUS; GENETIC RISK; GENETIC SCREENING; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MEDICAL RECORD; MUTATIONAL ANALYSIS; NOTE; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SHANK3 GENE; ARTICLE; CHROMOSOME DISORDER; GENETICS; MONOSOMY;

CARRIER PROTEIN; DIAGNOSTIC AGENT; SHANK3 PROTEIN, HUMAN;

CARRIER PROTEINS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; GENETIC TESTING; HUMANS; MONOSOMY;

EID: 79952756136     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.193     Document Type: Note

References (11)

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