TGIF mutations in human holoprosencephaly: Correlation between genotype and phenotype

Molecular Syndromology

Volumn 1, Issue 5, 2011, Pages 211-222

  Keaton, A A ^a,b   Solomon, B D ^a   Kauvar, E F ^a,b   El Jaick, K B ^a   Gropman, A L ^a,c   Zafer, Y ^d   Meck, J M ^d   Bale, S J ^e   Grange, D K ^f   Haddad, B R ^g   Gowans, G C ^h   Clegg, N J ⁱ   Delgado, M R ^i,j   Hahn, J S ^k   Pineda Alvarez, D E ^a   Lacbawan, F ^a,l   Velez J I ^a   Roessler, E ^a   Muenke, M ^a  

^a Medical Genetics Branch   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^e GENEDX   (United States)

^f WASHINGTON UNIVERSITY   (United States)

^g GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h University of Louisville School of Medicine   (United States)

ⁱ UNIVERSITY OF TEXAS AT DALLAS   (United States)

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

^k STANFORD UNIVERSITY   (United States)

^l SUNY DOWNSTATE MEDICAL CENTER   (United States)

more..

Author keywords

18p; 18p deletion; Holoprosencephaly; Monosomy 18p; TGIF

Indexed keywords

HOMEODOMAIN INTERACTING PROTEIN KINASE 2; TRANSFORMING GROWTH FACTOR BETA;

ADULT; ARTICLE; CHROMOSOME 18P; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATIONAL STUDY; FEMALE; GENE INSERTION; GENE MUTATION; GENOTYPE; HOLOPROSENCEPHALY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL;

EID: 79957460595     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000328203     Document Type: Article

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