Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)

European Journal of Human Genetics

Volumn 18, Issue 9, 2010, Pages 1070-

  Schwinger, Eberhard ^a   Devriendt, Koen ^b   Rauch, Anita ^c   Philip, Nicole ^d  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYTIC METHOD; CHROMOSOME ANALYSIS; CONGENITAL CATARACT FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME; CONGENITAL HYPOMYELINATING NEUROPATHY; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; GIANT AXON NEUROPATHY 1; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY NEURALGIC AMYOTROPHY; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HUMAN; NEUROPATHY; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SHORT SURVEY; ARTICLE; CHROMOSOME 22; CHROMOSOME DELETION; DIGEORGE SYNDROME; GENETICS; VELOCARDIOFACIAL SYNDROME;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIGEORGE SYNDROME; HUMANS; SENSITIVITY AND SPECIFICITY;

EID: 77955982898     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.5     Document Type: Short Survey

References (10)

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