TY  - GEN
AU  - Mackenroth,Luisa
AU  - Fischer-Zirnsak,Björn
AU  - Egerer,Johannes
AU  - Hecht,Jochen
AU  - Kallinich,Tilmann
AU  - Stenzel,Werner
AU  - Spors,Birgit
AU  - von Moers,Arpad
AU  - Mundlos,Stefan
AU  - Kornak,Uwe
AU  - Gerhold,Kerstin
AU  - Horn,Denise
TI  - 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
SN  - 1552-4833
PY  - 2016///1213
KW  - Alleles
KW  - Collagen Type I
KW  - genetics
KW  - Collagen Type I, alpha 1 Chain
KW  - DNA Mutational Analysis
KW  - Ehlers-Danlos Syndrome
KW  - diagnosis
KW  - Exome
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Immunohistochemistry
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Osteogenesis Imperfecta
KW  - Pedigree
KW  - Phenotype
KW  - Tenascin
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.37547
ER  -