Townes-Brocks Syndrome.
Kohlhase J.
Kohlhase J.
2007 Jan 24 [updated 2016 Jan 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2007 Jan 24 [updated 2016 Jan 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301618
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Review.
DIAGNOSIS/TESTING: The diagnosis of TBS is based on clinical findings; identification of a heterozygous SALL1 pathogenic variant on molecular genetic testing establishes the diagnosis if clinical features are inconclusive. ...The proportion of cases caused by de novo patho …
DIAGNOSIS/TESTING: The diagnosis of TBS is based on clinical findings; identification of a heterozygous SALL1 pathogenic variant on m …