Mackenroth, Luisa <br/><br/>
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.  [electronic resource] 

 -  American journal of medical genetics. Part A  Apr 2016 
 - 1080-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37547  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Collagen Type I--genetics<br/>Collagen Type I, alpha 1 Chain<br/>DNA Mutational Analysis<br/>Ehlers-Danlos Syndrome--diagnosis<br/>Exome<br/>Heterozygote<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Immunohistochemistry<br/>Infant<br/>Male<br/>Mutation<br/>Osteogenesis Imperfecta--diagnosis<br/>Pedigree<br/>Phenotype<br/>Tenascin--genetics