Somatic Mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks Syndrome with Duane Anomaly

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 812-815

  Van Den Akker, Peter C ^a   Van De Graaf, Raoul ^b   Dooijes, Dennis ^b   Anthonie J van Essen, ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEVELOPMENTAL GENE; DUANE RETRACTION SYNDROME; FAMILY HISTORY; FIBROBLAST; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; LETTER; MALE; MOSAICISM; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; TOWNES BROCKS SYNDROME;

ABNORMALITIES, MULTIPLE; CAPILLARIES; CHILD, PRESCHOOL; CODON, NONSENSE; DUANE RETRACTION SYNDROME; EAR, EXTERNAL; FINGERS; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MOSAICISM; SYNDROME; TOES; TRANSCRIPTION FACTORS; UROGENITAL ABNORMALITIES;

EID: 63749106133     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32738     Document Type: Letter

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