Analysis of genotype-phenotype correlations in human holoprosencephaly

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 154, Issue 1, 2010, Pages 133-141

  Solomon, Benjamin D ^a   Mercier, Sandra ^b,c   Vélez, Jorge I ^a,d   Pineda Alvarez, Daniel E ^a   Wyllie, Adrian ^a,e   Zhou, Nan ^a   Dubourg, Christèle ^b,f   David, Veronique ^b,f   Odent, Sylvie ^b,c   Roessler, Erich ^a   Muenke, Maximilian ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITÉ DE RENNES 1   (France)

^c SERVICE DE RHUMATOLOGIE   (France)

^d GEORGE WASHINGTON UNIVERSITY   (United States)

^e UNIVERSITY OF THE DISTRICT OF COLUMBIA   (United States)

^f PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

Holoprosencephaly (HPE)

Indexed keywords

DISEASE SEVERITY; GENE; GENE MUTATION; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; HOLOPROSENCEPHALY; HUMAN; PENETRANCE; PRIORITY JOURNAL; REVIEW; SHH GENE; SIX3 GENE; TGIF GENE; ZIC2 GENE;

ANIMALS; DNA MUTATIONAL ANALYSIS; GENOTYPE; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HUMANS; NUCLEAR PROTEINS; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 76149115564     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30240     Document Type: Review

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