Somatic mosaicism and variable expression of Townes-Brocks syndrome [5]

American Journal of Medical Genetics

Volumn 111, Issue 2, 2002, Pages 230-231

  Devriendt, Koen ^a,d   Fryns, Jean Pierre ^a   Lemmens, Francis ^b   Kohlhase, Jürgen ^c   Liebers, Manuela ^c  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b DEPARTMENT OF CARDIOLOGY   (Belgium)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d Center for Human Genetics   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; FAMILY HISTORY; GENE MUTATION; GENETIC COUNSELING; HUMAN; LETTER; MALE; MALFORMATION SYNDROME; MOSAICISM; PRIORITY JOURNAL; TOWNES BROCKS SYNDROME; ANUS ATRESIA; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; EXTERNAL EAR; EYE MALFORMATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PHENOTYPE; POLYDACTYLY; SYNDROME; THUMB;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; CASE REPORT; DEVELOPMENTAL DISABILITIES; EAR, EXTERNAL; EYE ABNORMALITIES; HEART DEFECTS, CONGENITAL; HUMAN; INFANT, NEWBORN; MALE; MOSAICISM; PHENOTYPE; POLYDACTYLY; SUPPORT, NON-U.S. GOV'T; SYNDROME; THUMB; HUMANS;

EID: 0037158490     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10485     Document Type: Letter

References (5)

1. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome
2. SALL1 mutations in Townes-Brocks syndrome and related disorders
3. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
4. The Townes-Brocks syndrome
5. Townes-Brocks syndrome