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.
Mackenroth, Luisa
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
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.37547 doi
Alleles
Collagen Type I--genetics
Collagen Type I, alpha 1 Chain
DNA Mutational Analysis
Ehlers-Danlos Syndrome--diagnosis
Exome
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Immunohistochemistry
Infant
Male
Mutation
Osteogenesis Imperfecta--diagnosis
Pedigree
Phenotype
Tenascin--genetics
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
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.37547 doi
Alleles
Collagen Type I--genetics
Collagen Type I, alpha 1 Chain
DNA Mutational Analysis
Ehlers-Danlos Syndrome--diagnosis
Exome
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Immunohistochemistry
Infant
Male
Mutation
Osteogenesis Imperfecta--diagnosis
Pedigree
Phenotype
Tenascin--genetics