sacrum, anorectal anomalies, and presacral mass consti-tutes Currarino syndrome (CS), which is associated with mutations in HLXB9. Methods: We analyzed 5 CS families and 6 sporadic cases for HLXB9 mutations by direct sequencing. Poten-tially pathologic expansions of HLXB9 GCC repeats were analyzed in patients, 4 general populations [Chi-nese, Japanese, Yoruba, and Centre du Etude Polymor-phisme Human (CEPH)] from the HapMap project, an
AbstractObjectiveCurrarino syndrome (CS) comprises a presacral mass, anorectal malformation, and a s...
BACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most comm...
The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by ...
sacrum, anorectal anomalies, and presacral mass consti-tutes Currarino syndrome (CS), which is assoc...
BACKGROUND: The combination of partial absence of the sacrum, anorectal anomalies, and presacral mas...
Purpose: The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass c...
The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome...
Background/purpose: Currarino syndrome (CS) phenotype, initially described as the triad of hemisacru...
Background/purpose Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum...
BACKGROUND: The Currarino triad is a relatively unknown hereditary disorder linked to the 7q36 regio...
Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malfor...
Anorectal malformations (ARMs) are birth defects that require surgery and carry significant chronic ...
Poster: Session Title - Complex Traits and Polygenic Disorders - Program no. 2066FAnorectal malforma...
<div><p>Anorectal malformations (ARMs) are birth defects that require surgery and carry significant ...
Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and m...
AbstractObjectiveCurrarino syndrome (CS) comprises a presacral mass, anorectal malformation, and a s...
BACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most comm...
The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by ...
sacrum, anorectal anomalies, and presacral mass consti-tutes Currarino syndrome (CS), which is assoc...
BACKGROUND: The combination of partial absence of the sacrum, anorectal anomalies, and presacral mas...
Purpose: The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass c...
The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome...
Background/purpose: Currarino syndrome (CS) phenotype, initially described as the triad of hemisacru...
Background/purpose Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum...
BACKGROUND: The Currarino triad is a relatively unknown hereditary disorder linked to the 7q36 regio...
Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malfor...
Anorectal malformations (ARMs) are birth defects that require surgery and carry significant chronic ...
Poster: Session Title - Complex Traits and Polygenic Disorders - Program no. 2066FAnorectal malforma...
<div><p>Anorectal malformations (ARMs) are birth defects that require surgery and carry significant ...
Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and m...
AbstractObjectiveCurrarino syndrome (CS) comprises a presacral mass, anorectal malformation, and a s...
BACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most comm...
The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by ...
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