A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II-Reference-Cited by-同舟云学术

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II

Published:2021-07-31 Issue:9 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Liu Haifeng¹,Tao Na²,Wang Yan¹,Yang Yang²,He Xiaoli¹,Zhang Yu¹,Zhou Yuantao¹,Liu Xiaoning³,Feng Xingxing⁴,Sun Meiyuan²,Xu Fang²,Su Yanfang²,Li Li¹^ORCID

Affiliation:

1. Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children's Major Disease Research Yunnan Medical Center for Pediatric Diseases Yunnan Institute of PediatricsKunming Children’s Hospital Kunming Yunnan China

2. Department of Endocrinology Kunming Children’s Hospital Kunming Yunnan China

3. Department of Pharmacy Kunming Children’s Hospital Kunming Yunnan China

4. Department of Clinical Laboratory Kunming Children’s Hospital Kunming Yunnan China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1761

Reference35 articles.

1. Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly

2. Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype

3. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations

4. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

5. Novel compound heterozygous mutations of the PCNT gene in one Chinese boy with microcephalic osteodysplastic primordial dwarfism typeⅡ: Case report and literature review;Chang G.;Chinese Journal of Endocrinology and Metabolism,2017

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel mutation in Patients with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II);2024-07-19

2. Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size;Cells;2023-07-07

3. PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest;Aging;2023-05-19