Antley-Bixler Syndrome, Autosomal Dominant

Known as: ABS2, Antley Bixler Syndrome, Multisynostotic Osteodysgenesis 
Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the… (More)
National Institutes of Health

Papers overview

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2006
2006
The Antley-Bixler syndrome (ABS) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis… (More)
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Highly Cited
2005
Highly Cited
2005
We report on molecular and clinical findings in 10 Japanese patients (four males and six females) from eight families (two pairs… (More)
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2004
2004
This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by… (More)
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2004
2004
Antley-Bixler syndrome (ABS, MIM 207410) is a skeletal abnormality syndrome primarily affecting head and limbs. Little is known… (More)
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2002
2002
Antley-Bixler syndrome (ABS) is a rare multiple anomaly syndrome comprising radiohumeral synostosis, bowed femora, fractures of… (More)
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2000
2000
The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype… (More)
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2000
2000
The diagnosis of occipital plagiocephaly has remained a complex and controversial issue in the field of craniofacial surgery… (More)
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1998
1998
The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic… (More)
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1996
1996
The diagnosis and treatment of posterior plagiocephaly is one of the most controversial aspects of craniofacial surgery. The… (More)
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1992
1992
Two actin-binding sites have been identified on human dystrophin by proton NMR spectroscopy of synthetic peptides corresponding… (More)
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