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Antley-Bixler Syndrome Phenotype

Known as: Antley-Bixler Syndrome Phenotype [Disease/Finding], Antley Bixler Syndrome Phenotype, Syndrome Phenotype, Antley-Bixler 
An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral… 
National Institutes of Health

Related topics

Related topics

10 relations

Narrower (2)

Antley-Bixler Syndrome with Disordered SteroidogenesisAntley-Bixler Syndrome, Autosomal Dominant
Fibroblast Growth Factor Receptor 2In BloodMicrobiologicalNADPH-Ferrihemoprotein Reductase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Partial Trisomy of the Pericentromeric Region of Chromosome 5 in a Girl with Binder Phenotype
The patient reported here displayed most characteristic features of Binder syndrome (OMIM: 155050), a rare maxillonasal… 
2009
2009
Ankyloglossia in Dogs: A Morphological and Immunohistochemical Study
Ankyloglossia is a congenital anomaly of the tongue that is usually characterized by a short and thick lingual frenulum. The… 
2007
2007
USE OF RECOMBINANT ERYTHROPOIETIN FOR THE MANAGEMENT OF SEVERE HEMOLYTIC DISEASE OF THE NEWBORN OF A K0 PHENOTYPE MOTHER
Very few people do not express any Kell antigens on their red blood cells (K0 phenotype). They can be immunized by transfusion or… 
2006
2006
Low doses of gamma ionizing radiation increase hprt mutant frequencies of TK6 cells without triggering the mutator phenotype pathway
The TK6 lymphoblastoid cell line is known to be mismatch repair (MMR) and p53 proficient. Deficiency in MMR results in a mutator… 
2003
2003
Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation
We observed the development of phenotypic hereditary haemochromatosis in a non-hereditary haemochromatosis liver transplant… 
2003
2003
Distribution of the CCR5 Gene 32-Base Pair Deletion and CCR5 Expression in Chinese Minorities
China has an ethnically diverse population. Genetic differences may contribute to disparities in the efficiency of HIV… 
Review
2001
Review
2001
A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15)
This report describes a nearly 25-year-old female with an interstitial deletion of band 14 in the long arm of one chromosome 6… 
1994
1994
Lack of association between maternal phosphoglucomutase‐1 phenotype and fetal macrosomia in diabetic pregnancy
Objective To assess the reports that maternal phosphoglucomutase‐1 (PGM 1) phenotype is highly related to macrosomia in diabetic… 
1986
1986
Further evidence for the lack of association between acetylator phenotype and systemic lupus erythematosus.
An association between host acetylator phenotype and idiopathic systemic lupus erythematosus (SLE) has been sought for over a… 
1971
1971
The Rare Kell Blood Group Phenotype K° in a Japanese Family 1
Abstract. The rare Kell blood group phenotype K° was detected in a Japanese male when his red cells failed to agglutinate in… 
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