Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73-Reference-Cited by-同舟云学术

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Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73

Published:2019-10-21 Issue:4 Volume:60 Page:128-130
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenit Anom

Author:

Nishimura Naoto¹²^ORCID,Murakami Hiroaki¹^ORCID,Saito Toshiyuki³,Masuno Mitsuo⁴,Kurosawa Kenji¹^ORCID

Affiliation:

1. Division of Medical GeneticsKanagawa Children's Medical Center Yokohama Japan

2. Department of PediatricsNational Defense Medical College Tokorozawa Japan

3. Department of Clinical LaboratoryKanagawa Children's Medical Center Yokohama Japan

4. Genetic Counseling Program, Graduate School of Health and WelfareKawasaki University of Medical Welfare Kurashiki Japan

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cga.12356

Reference5 articles.

1. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors

2. Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3

3. 17q21.32‐q22 Deletion in a girl with osteogenesis imperfecta, tricho‐dento‐osseous syndrome, and intellectual disability

4. Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy

5. Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome

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1. Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan;Frontiers in Neurology;2023-05-12

2. Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita;Human Genome Variation;2022-05-17

3. Further delineation of SET ‐related intellectual disability syndrome;American Journal of Medical Genetics Part A;2022-02-05

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