Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient [5]

American Journal of Medical Genetics

Volumn 140 A, Issue 6, 2006, Pages 649-651

  Walter, Kerstin N ^a   Greenhalgh, K Lynn ^b,c   Newbury Ecob, Ruth A ^b   Kohlhase, Jürgen ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b ST MICHAEL'S HOSPITAL   (United Kingdom)

^c ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SALL1; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADOLESCENT; ANORECTAL MALFORMATION; ARACHNODACTYLY; CASE REPORT; DEVELOPMENTAL DISORDER; FEMALE; GENE MUTATION; HEAD CIRCUMFERENCE; HEARING LOSS; HUMAN; HUMAN CELL; KARYOTYPING; LEARNING DISORDER; LETTER; MACROCEPHALY; MOSAICISM; MOUTH ULCER; PRIORITY JOURNAL; SCOLIOSIS; TOWNES BROCKS SYNDROME; TRISOMY 8; URETER OBSTRUCTION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANAL CANAL; CHROMOSOMES, HUMAN, PAIR 8; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; KARYOTYPING; MALE; MOSAICISM; MUTATION; PEDIGREE; SYNDROME; TRANSCRIPTION FACTORS; TRISOMY;

EID: 33644870443     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31136     Document Type: Letter

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