A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

European Journal of Human Genetics

Volumn 22, Issue 6, 2014, Pages 844-846

  De Munnik, Sonja A ^a   García Miñaúr, Sixto ^b   Hoischen, Alexander ^a   Van Bon, Bregje W ^a   Boycott, Kym M ^c   Schoots, Jeroen ^a   Hoefsloot, Lies H ^a   Knoers, Nine V A M ^d   Bongers, Ernie M H F ^a   Brunner, Han G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

chromosome 1q43q44 microdeletion; ZBTB18; ZNF238

Indexed keywords

AMNIOCENTESIS; ARTICLE; ARTIFICIAL MILK; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CHILD; CHROMOSOME 1Q43Q44 MICRODELETION; CHROMOSOME DELETION; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; EXOME; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; FERTILIZATION IN VITRO; GASTROESOPHAGEAL REFLUX; GENE; GENE INACTIVATION; GENE LOCATION; HAPLOINSUFFICIENCY; HEAD CIRCUMFERENCE; HUMAN; INTRAUTERINE GROWTH RETARDATION; LABOR INDUCTION; MICROCEPHALY; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OLIGOSPERMIA; PENETRANCE; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SPEECH DELAY; STOP CODON; SUBFERTILITY; WEIGHT GAIN; ZBTB18 GENE; CHROMOSOME 1; CHROMOSOME DISORDER; GENETICS; INFANT; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; SYNDROME;

MUS;

REPRESSOR PROTEIN; STOP CODON; ZNF238 PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; CODON, NONSENSE; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; INFANT; REPRESSOR PROTEINS; SYNDROME;

EID: 84901007119     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.249     Document Type: Article

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