Publications:

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.

Npj Genomic Medicine

Zhao, Sen S; Zhang, Yuanqiang Y; Hallgrimsdottir, Sigrun S; Zuo, Yuzhi Y; Li, Xiaoxin X; Batkovskyte, Dominyka D; Liu, Sen S; Lindelöf, Hillevi H; Wang, Shengru S; Hammarsjö, Anna A; Yang, Yang Y; Ye, Yongyu Y; Wang, Lianlei L; Yan, Zihui Z; Lin, Jiachen J; Yu, Chenxi C; Chen, Zefu Z; Niu, Yuchen Y; Wang, Huizi H; Zhao, Zhi Z; Liu, Pengfei P; Qiu, Guixing G; Posey, Jennifer E JE; Wu, Zhihong Z; Lupski, James R JR; Micule, Ieva I; Anderlid, Britt-Marie BM; Voss, Ulrika U; Sulander, Dennis D; Kuchinskaya, Ekaterina E; Nordgren, Ann A; Nilsson, Ola O; , ; Zhang, Terry Jianguo TJ; Grigelioniene, Giedre G; Wu, Nan N

Publication Date: 2022-02-15

Variant appearance in text: MYH3: 4031T>C; Leu1344Pro

PubMed Link: 35169139

Variant Present in the following documents:

• 41525_2021_273_MOESM2_ESM.pdf

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

American Journal Of Human Genetics

Cameron-Christie, Sophia R SR; Wells, Constance F CF; Simon, Marleen M; Wessels, Marja M; Tang, Candy Z N CZN; Wei, Wenhua W; Takei, Riku R; Aarts-Tesselaar, Coranne C; Sandaradura, Sarah S; Sillence, David O DO; Cordier, Marie-Pierre MP; Veenstra-Knol, Hermine E HE; Cassina, Matteo M; Ludwig, Kathrin K; Trevisson, Eva E; Bahlo, Melanie M; Markie, David M DM; Jenkins, Zandra A ZA; Robertson, Stephen P SP

Publication Date: 2018-06-07

Variant appearance in text: MYH3: 4031T>C

PubMed Link: 29805041

Variant Present in the following documents:

• Main text

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Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

European Journal Of Human Genetics : Ejhg

Carapito, Raphael R; Goldenberg, Alice A; Paul, Nicodème N; Pichot, Angélique A; David, Albert A; Hamel, Antoine A; Dumant-Forest, Clémentine C; Leroux, Julien J; Ory, Benjamin B; Isidor, Bertrand B; Bahram, Seiamak S

Publication Date: 2016-12

Variant appearance in text: MYH3: 4031T>C; Leu1344Pro

PubMed Link: 27381093

Variant Present in the following documents:

• Main text

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