Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature-Reference-Cited by-同舟云学术

Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature

Published:2020-02 Issue:2 Volume:63 Page:103652
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ting Chun Yi,Bhatia Neha Singh,Lim Jiin Ying,Goh Chew-Yin Jasmine,Vasanwala Rashida Farhad,Ong Caroline Choo-Phaik,Seow Wan Tew,Yeow Vincent Kok-Leng,Ting Teck Wah,Ng Ivy Swee-Lian,Jamuar Saumya Shekhar

Funder

Biomedical Research Council

Singapore Undiagnosed Disease Programme

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference24 articles.

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2. Mutations in the pre-replication complex cause Meier-Gorlin syndrome;Bicknell;Nat. Genet.,2011

3. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome;Bicknell;Nat. Genet.,2011

4. De novo GMNN mutations cause autosomal-dominant primordial dwarfism associated with meier-gorlin syndrome;Burrage;Am. J. Hum. Genet.,2015

5. Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders;Bylstra;Genet. Med.,2019

Cited by 12 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. Meier–Gorlin syndrome type 7: a rare cause of primordial dwarfism: two new cases and literature review;Clinical Dysmorphology;2024-06-17

2. A second hotspot for pathogenic exon-skipping variants in CDC45;European Journal of Human Genetics;2024-03-11

3. The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome;European Journal of Human Genetics;2023-04-14

4. An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort;Frontiers in Genetics;2022-09-02

5. High abundance of CDC45 inhibits cell proliferation through elevation of HSPA6;Cell Proliferation;2022-06