Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3-Reference-Cited by-同舟云学术

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Published:2018-06 Issue:6 Volume:102 Page:1115-1125
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Cameron-Christie Sophia R.,Wells Constance F.,Simon Marleen,Wessels Marja,Tang Candy Z.N.,Wei Wenhua,Takei Riku,Aarts-Tesselaar Coranne,Sandaradura Sarah,Sillence David O.,Cordier Marie-Pierre,Veenstra-Knol Hermine E.,Cassina Matteo,Ludwig Kathrin,Trevisson Eva,Bahlo Melanie,Markie David M.,Jenkins Zandra A.,Robertson Stephen P.

Funder

Curekids

Curekids New Zealand

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies;Coêlho;Am. J. Med. Genet.,1998

2. Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar);Langer;Am. J. Med. Genet.,1994

3. Spondylocarpotarsal synostosis with ocular findings;Steiner;Am. J. Med. Genet.,2000

4. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis;Krakow;Nat. Genet.,2004

5. Autosomal dominant spondylocarpotarsal synostosis syndrome: phenotypic homogeneity and genetic heterogeneity;Isidor;Am. J. Med. Genet. A.,2008

Cited by 19 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. Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B);Molecular Genetics & Genomic Medicine;2024-03

2. A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum;Genes;2024-01-19

3. Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis;Prenatal Diagnosis;2023-09-13

4. Musculoskeletal defects associated with myosin heavy chain‐embryonic loss of function are mediated by the YAP signaling pathway;EMBO Molecular Medicine;2023-07-26

5. Mutation of the MYH3 gene causes recessive cleft palate in Limousine cattle;Genetics Selection Evolution;2022-10-29