Implications for genotype-phenotype predictions in Townes-Brocks syndrome: Case report of a novel SALL1 deletion and review of the literature

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 3, 2012, Pages 533-540

  Miller, Erin M ^a   Hopkin, Robert ^a   Bao, Liming ^a   Ware, Stephanie M ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Coloboma; Genotyope; Haploinsufficiency; Nonsense mediated decay; Phenotype; Townes Brocks syndrome

Indexed keywords

ADULT; ANUS ATRESIA; ANUS SURGERY; ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 16Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COLOBOMA; FAMILY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL BOSSING; GENE; GENE DELETION; GENE LOSS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; KARYOTYPE 46,XX; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; SALL1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TOWNES BROCKS SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; ANUS, IMPERFORATE; FEMALE; GENE DELETION; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT, NEWBORN; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; THUMB; TRANSCRIPTION FACTORS;

EID: 84857110948     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34426     Document Type: Article

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