Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome

European Journal of Human Genetics

Volumn 22, Issue 4, 2014, Pages 464-470

  Andersen, Erica F ^a,b   Carey, John C ^b   Earl, Dawn L ^c   Corzo, Deyanira ^d   Suttie, Michael ^e   Hammond, Peter ^e   South, Sarah T ^a,b  

^a ARUP LABORATORIES   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

3D facial analysis; 4p16.3 deletion; LETM1; WHSC1; Wolf Hirschhorn syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4P; CHROMOSOME ARM; CLINICAL FEATURE; CRANIOFACIAL MORPHOLOGY; FEEDING DISORDER; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HAPLOINSUFFICIENCY; HEMIZYGOSITY; HUMAN; LETM1 GENE; MALE; MOTOR DYSFUNCTION; PATHOGENESIS; PRIORITY JOURNAL; SPEECH DISORDER; WHSC1 GENE; WOLF HIRSCHHORN SYNDROME;

CALCIUM-BINDING PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MALE; MEMBRANE PROTEINS; PHENOTYPE; REPRESSOR PROTEINS; SEQUENCE DELETION; WOLF-HIRSCHHORN SYNDROME;

EID: 84896546188     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.192     Document Type: Article

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