Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome

European Journal of Medical Genetics

Volumn 57, Issue 2-3, 2014, Pages 76-80

  Dasouki, Majed ^a,b   Roberts, Jennifer ^a   Santiago, Angela ^a   Saadi, Irfan ^a   Hovanes, Karine ^c  

^a UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c NONE   (United States)

Author keywords

3q26.33 3q27.2 microdeletion syndrome; Array CGH; Growth retardation; Immunodeficiency; LAMP3; Thrombopoietin THPO

Indexed keywords

AMELOGENIN; DENDRITIC CELL LYSOSOME ASSOCIATED MEMBRANE PROTEIN; LUNG SURFACTANT;

ARTICLE; ASPERGER SYNDROME; CASE REPORT; CAUCASIAN; CHILD; CHROMOSOME 3Q; CONGENITAL MALFORMATION; DENDRITIC CELL; GENE DELETION; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; IMMUNOGLOBULIN DEFICIENCY; KLINEFELTER SYNDROME; LUNG DISEASE; MALE; MICROARRAY ANALYSIS; MICRODELETION SYNDROME; MUSCLE HYPOTONIA; OSTEOPENIA; PHENOTYPE; PNEUMONIA; PROTEIN DEGRADATION; PROTEIN TRANSPORT; RECURRENT INFECTION; RESPIRATORY DISTRESS; SCHOOL CHILD; THROMBOCYTOPENIA; TOOTH DISEASE; CHROMOSOME 3; CHROMOSOME DELETION; CHROMOSOME DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; SYNDROME;

BACTERIA (MICROORGANISMS);

CHILD; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; SYNDROME;

EID: 84897107970     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.12.007     Document Type: Article

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