A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2958-2960

  Seoighe, Deirdre Máire ^a   Gadancheva, Veselina ^a   Regan, Regina ^b   Mcdaid, Jennifer ^a   Brenner, Clare ^a   Ennis, Sean ^b   Betts, David Richard ^a   Eadie, Patricia Anne ^a   Lynch, Sally Ann ^a  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHROGRYPOSIS; AUTOSOMAL DOMINANT DISORDER; BONE RADIOGRAPHY; BRACHYDACTYLY; CAMPTODACTYLY; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME 5Q31.1; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COPY NUMBER VARIATION; DISEASE SEVERITY; ELBOW DISEASE; GENE; GENE EXPRESSION REGULATION; GESTATIONAL AGE; HUMAN; LETTER; LIEBENBERG SYNDROME; LIMB DEFORMITY; MALE; PHENOTYPIC VARIATION; PITX1 GENE; PRIORITY JOURNAL; WRIST DISEASE; CARPAL BONE; CHROMOSOME 5; CONGENITAL MALFORMATION; ELBOW; FINGER; GENETIC ASSOCIATION STUDY; GENETICS; HAND DEFORMITIES, CONGENITAL; NEWBORN; PHENOTYPE; SYNOSTOSIS; WRIST;

HOMEOBOX PROTEIN PITX1; PAIRED BOX TRANSCRIPTION FACTOR;

BRACHYDACTYLY; CARPAL BONES; CHROMOSOMES, HUMAN, PAIR 5; ELBOW JOINT; FINGERS; GENETIC ASSOCIATION STUDIES; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; SYNOSTOSIS; WRIST JOINT;

EID: 84911436065     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36712     Document Type: Letter

References (11)

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