Phenotypic variability in a family with Townes-Brocks syndrome

Journal of Human Genetics

Volumn 55, Issue 8, 2010, Pages 550-551

  Sudo, Yosuke ^a   Numakura, Chikahiko ^a   Abe, Akiko ^a   Aiba, Satoru ^b   Matsunaga, Akira ^a   Hayasaka, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b Yamagata Prefectural Central Hospital   (Japan)

Author keywords

phenotypic variability; SALL1; Townes Brocks syndrome

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONGENITAL HEART DISEASE; DISEASE SEVERITY; FAMILIAL DISEASE; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HEARING IMPAIRMENT; HUMAN; MALE; PHENOTYPIC VARIATION; POLYDACTYLY; TOWNES BROCKS SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; FEMALE; GENETIC VARIATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 77957572239     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.64     Document Type: Article

References (13)

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