Holoprosencephaly due to mutations in ZIC2: Alanine tract expansion mutations may be caused by parental somatic recombination

Human Molecular Genetics

Volumn 10, Issue 8, 2001, Pages 791-796

  Brown, Lúcia Y ^a   Odent, Sylvie ^b   David, Véronique ^b   Blayau, Martine ^b   Dubourg, Christèle ^b   Apacik, Can ^c,j   Delgado, Mauricio A ^d   Hall, Bryan D ^e   Reynolds, James F ^f   Sommer, Annemarie ^g   Wieczorek, Dagmar ^h   Brown, Stephen A ^a   Muenke, Maximilian ⁱ  

^a PH16 Columbia University ^*  (United States)

^b PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^c Kinderzentrum Munchen   (Germany)

^d TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^e UNIVERSITY OF KENTUCKY   (United States)

^f Shodair Hospital   (United States)

^g NATIONWIDE CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY OF DUISBURG ESSEN   (Germany)

ⁱ NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^j CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

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Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; ZIC 2 PROTEIN; ZINC FINGER PROTEIN;

ADOLESCENT; ARTICLE; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CHROMOSOME; CONTROLLED STUDY; DISEASE SEVERITY; ERROR; FACE MALFORMATION; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC RECOMBINATION; HAPLOIDY; HEMISPHERE; HOLOPROSENCEPHALY; HUMAN; HYPOTHESIS; INFANT; MAJOR CLINICAL STUDY; MALE; MOSAICISM; NEWBORN; PARENT; PREDICTION; PREVALENCE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0035311372     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.8.791     Document Type: Article

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