Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 (COL1A1andDLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion-Reference-Cited by-同舟云学术

Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 (COL1A1andDLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion

Published:2013-08 Issue: Volume: Page:n/a-n/a
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Harbuz Radu,Bilan Frédéric,Couet Dominique,Charraud Valérie,Kitzis Alain,Gilbert-Dussardier Brigitte

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36122/fullpdf

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5. Chromosome Abnormalities and Genetic Counseling

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2. Whole-genome analysis of a putative rare and complex interchromosomal reciprocal insertion: thorough investigations for a straightforward interpretation;Reproductive BioMedicine Online;2021-11

3. A 235 Kb deletion at 17q21.33 encompassing the COL1A1 , and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report;Molecular Genetics & Genomic Medicine;2020-04-13

4. Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome;Oral Diseases;2018-09-09

5. 17q21.32‐q22 Deletion in a girl with osteogenesis imperfecta, tricho‐dento‐osseous syndrome, and intellectual disability;Congenital Anomalies;2018-07-04