TY  - GEN
AU  - Harbuz,Radu
AU  - Bilan,Frédéric
AU  - Couet,Dominique
AU  - Charraud,Valérie
AU  - Kitzis,Alain
AU  - Gilbert-Dussardier,Brigitte
TI  - Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion
SN  - 1552-4833
PY  - 2014///0515
KW  - Chromosome Duplication
KW  - Chromosomes, Human, Pair 17
KW  - Chromosomes, Human, Pair 7
KW  - Collagen Type I
KW  - genetics
KW  - Collagen Type I, alpha 1 Chain
KW  - Comparative Genomic Hybridization
KW  - Craniofacial Abnormalities
KW  - diagnosis
KW  - Dental Enamel Hypoplasia
KW  - Female
KW  - Hair Diseases
KW  - Homeodomain Proteins
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Intellectual Disability
KW  - Male
KW  - Middle Aged
KW  - Mutagenesis, Insertional
KW  - Osteogenesis Imperfecta
KW  - Pedigree
KW  - Phenotype
KW  - Sequence Deletion
KW  - Syndrome
KW  - Transcription Factors
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.36122
ER  -