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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… 
National Institutes of Health

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Broader (1)

Antley-Bixler Syndrome Phenotype
ArachnodactylyAtrial Septal DefectsAutosomal recessive inheritanceBrachycephaly

Papers overview

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Highly Cited
2015
Highly Cited
2015
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
Highly Cited
2013
Highly Cited
2013
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Craniosynostosis, the premature fusion of the cranial sutures, is a heterogeneous disorder with a prevalence of ∼1 in 2,200 (refs… 
Highly Cited
2002
Highly Cited
2002
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
Antley-Bixler syndrome (ABS) is a rare multiple anomaly syndrome comprising radiohumeral synostosis, bowed femora, fractures of… 
Highly Cited
2000
Highly Cited
2000
Tms320c6000 cpu and instruction set reference guide
A force transmitting connection for interconnecting a pair of members to transmit force therebetween includes a pair of spaced… 
Highly Cited
2000
Highly Cited
2000
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive gene. However, patients with this phenotype… 
Highly Cited
1998
Highly Cited
1998
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.
The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic… 
Highly Cited
1998
Highly Cited
1998
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.
Review
1996
Review
1996
Plagiocephaly: Differential Diagnosis Based on Endocranial Morphology
&NA; Plagiocephaly is a descriptive term that connotes an asymmetrically oblique or twisted head. Such cranial dysmorphology has… 
Highly Cited
1992
Highly Cited
1992
Binding sites involved in the interaction of actin with the N‐terminal region of dystrophin
1980
1980
The syndrome of multisynostotic osteodysgenesis with long-bone fractures.
Described here are two patients with a newly recognized syndrome of bone and cartilage maldevelopment which, we believe, results… 
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