A novel six3 mutation segregates with holoprosencephaly in a large family

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 919-925

  Solomon, Benjamin D ^a   Lacbawan, Felicitas ^a,b   Jain, Mahim ^a   Domene, Sabina ^a   Roessler, Erich ^a   Moore, Cynthia ^c   Dobyns, William B ^d   Muenke, Maximilian ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

^c INDIANA UNIVERSITY   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

Author keywords

Holoprosencephaly; HPE; SIX3

Indexed keywords

TRANSCRIPTION FACTOR SIX3;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 2; CLINICAL ARTICLE; CONGENITAL MALFORMATION; FEMALE; HOLOPROSENCEPHALY; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NEWBORN; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 66849095961     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32813     Document Type: Article

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