sacrum, anorectal anomalies, and presacral mass consti-tutes Currarino syndrome (CS), which is associated with mutations in HLXB9. Methods: We analyzed HLXB9 mutations by direct sequencing in 5 CS families, 6 sporadic cases, and 97 healthy Chinese individuals and potentially pathologic expansion of HLXB9 GCC repeats in patients, 4 general populations [Chinese, Japanese, Yoruba, and the Utah subset of the Centre du Etude Polymorphisme Humain (CEPH)] from the HapMap project, and 45 Chinese individuals. Results: We identified 6 novel mutations, including 2 missense mutations affecting highly conserved residue
Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malfor...
A large number of colorectal cancers have a genetic background in China. However, due to insufficien...
AIM: To screen mutations in the <i>ABCB</i> 6 gene in a Chinese family with autosomal dominant colob...
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: The Currarino triad is a relatively unknown hereditary disorder linked to the 7q36 regio...
Background/purpose: Currarino syndrome (CS) phenotype, initially described as the triad of hemisacru...
Poster: Session Title - Complex Traits and Polygenic Disorders - Program no. 2066FAnorectal malforma...
Background/purpose Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum...
BACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most comm...
Anorectal malformations (ARMs) are birth defects that require surgery and carry significant chronic ...
<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...
Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malfor...
A large number of colorectal cancers have a genetic background in China. However, due to insufficien...
AIM: To screen mutations in the <i>ABCB</i> 6 gene in a Chinese family with autosomal dominant colob...
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: The Currarino triad is a relatively unknown hereditary disorder linked to the 7q36 regio...
Background/purpose: Currarino syndrome (CS) phenotype, initially described as the triad of hemisacru...
Poster: Session Title - Complex Traits and Polygenic Disorders - Program no. 2066FAnorectal malforma...
Background/purpose Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum...
BACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most comm...
Anorectal malformations (ARMs) are birth defects that require surgery and carry significant chronic ...
<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...
Anorectal malformations (ARMs) are common congenital anomalies that account for 1:4 digestive malfor...
A large number of colorectal cancers have a genetic background in China. However, due to insufficien...
AIM: To screen mutations in the <i>ABCB</i> 6 gene in a Chinese family with autosomal dominant colob...