Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations-Reference-Cited by-同舟云学术

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Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations

Published:2014-12 Issue:6 Volume:81 Page:533-536
ISSN:1297-319X
Container-title:Joint Bone Spine
language:en
Short-container-title:Joint Bone Spine

Author:

Lee Beom Hee,Kim Ok-Hwa,Yoon Hye-Kyung,Kim Jae-Min,Park Kunbo,Yoo Han-Wook

Funder

National Research Foundation of Korea, funded by the Ministry of Education, Science and Technology

Publisher

Elsevier BV

Subject

Rheumatology

Reference16 articles.

1. GDF5 is a second locus for multiple-synostosis syndrome;Dawson;Am J Hum Genet,2006

2. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis;Gong;Nat Genet,1999

3. Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene;Wu;Am J Hum Genet,2009

4. A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD);Potti;Hum Mutat,2011

5. Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome;van den Ende;Clin dysmorphol,2013

Cited by 11 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. Loss of Axin1 in limb mesenchymal cells leads to multiple synostoses syndrome-like phenotype in mice;The Innovation Medicine;2024

2. A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant;Clinical Dysmorphology;2022-07-14

3. Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation;Molecular Genetics & Genomic Medicine;2022-03-25

4. Multiple synostoses syndrome: Radiological findings and orthopedic management in a single institution cohort;Journal of Pediatric Rehabilitation Medicine;2021-09-28

5. GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations;Bone;2021-03

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