Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A

American Journal of Medical Genetics, Part A

Volumn 161, Issue 5, 2013, Pages 1105-1109

  Nimmakayalu, Manjunath ^a   Horton, V Kim ^a   Darbro, Ben ^a   Patil, Shivanand R ^a   Alsayouf, Hamza ^b   Keppler Noreuil, Kim ^a   Shchelochkov, Oleg A ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b MERCY MEDICAL CENTER   (United States)

Author keywords

19p13.13 deletion; CACNA1A; NFIX

Indexed keywords

CALCIUM CHANNEL; NUCLEAR FACTOR;

ADOLESCENT; ARTICLE; ATAXIA; CACNA1A GENE; CASE REPORT; CHILD; CHROMOSOME 19P; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FACE PROFILE; FEMALE; GENE DISRUPTION; GENE DUPLICATION; GENE FUNCTION; GERM LINE; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; NFIX GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; CALCIUM CHANNELS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 19; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GERM-LINE MUTATION; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MOSAICISM; SEQUENCE DELETION; SYNDROME;

EID: 84876806599     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35790     Document Type: Article

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