Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.
Blanck
C
C
Kohlhase
J
J
Engels
S
S
Burfeind
P
P
Engel
W
W
Bottani
A
A
Patel
M S
MS
Kroes
H Y
HY
Cobben
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D001006:Anus, Imperforate / Q000209:etiology / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
C104146:SALL1 protein, human; D014157:Transcription Factors