17q21.32‐q22 Deletion in a girl with osteogenesis imperfecta, tricho‐dento‐osseous syndrome, and intellectual disability-Reference-Cited by-同舟云学术

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17q21.32‐q22 Deletion in a girl with osteogenesis imperfecta, tricho‐dento‐osseous syndrome, and intellectual disability

Published:2018-07-04 Issue:2 Volume:59 Page:51-52
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Yokoi Takayuki¹^ORCID,Saito Toshiyuki²,Nagai Jun‐ichi²,Kurosawa Kenji¹

Affiliation:

1. Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan

2. Department of Clinical Laboratory Kanagawa Children's Medical Center Yokohama Japan

Funder

Japan Science and Technology Agency

Core Research for Evolutional Science and Technology

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12292

Reference6 articles.

1. Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions

2. Complete COL1A1 allele deletions in osteogenesis imperfecta

3. 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

4. Morphological analyses and a novelde novo DLX3mutation associated with tricho-dento-osseous syndrome in a Chinese family

5. Case 24-2014

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1. Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73;Congenital Anomalies;2019-10-21

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