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

SR Cameron-Christie; CF Wells; MEH Simon; Marja Wessels; CZN Tang; WH Wei; R Takei; C Aarts-Tesselaar; S Sandaradura; DO Sillence; MP Cordier; HE Veenstra-Knol; M Cassina; K Ludkig; E Trevisson; M Bahlo; DM Markie; ZA Jenkins; SP Robertson

doi:10.1016/j.ajhg.2018.04.008

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

SR Cameron-Christie, CF Wells, MEH Simon, Marja Wessels, CZN Tang, WH Wei, R Takei, C Aarts-Tesselaar, S Sandaradura, DO Sillence, MP Cordier, HE Veenstra-Knol, M Cassina, K Ludkig, E Trevisson, M Bahlo, DM Markie, ZA Jenkins, SP Robertson

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

14 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1115-1125
Number of pages	11
Journal	American Journal of Human Genetics
Volume	102
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2018.04.008
Publication status	Published - 2018

Access to Document

10.1016/j.ajhg.2018.04.008

http://hdl.handle.net/1765/106532

Cite this

Cameron-Christie, SR., Wells, CF., Simon, MEH., Wessels, M., Tang, CZN., Wei, WH., Takei, R., Aarts-Tesselaar, C., Sandaradura, S., Sillence, DO., Cordier, MP., Veenstra-Knol, HE., Cassina, M., Ludkig, K., Trevisson, E., Bahlo, M., Markie, DM., Jenkins, ZA., & Robertson, SP. (2018). Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. American Journal of Human Genetics, 102(6), 1115-1125. https://doi.org/10.1016/j.ajhg.2018.04.008

@article{863b10e16cf6415cbb8c52eabec89ec2,

title = "Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3",

author = "SR Cameron-Christie and CF Wells and MEH Simon and Marja Wessels and CZN Tang and WH Wei and R Takei and C Aarts-Tesselaar and S Sandaradura and DO Sillence and MP Cordier and HE Veenstra-Knol and M Cassina and K Ludkig and E Trevisson and M Bahlo and DM Markie and ZA Jenkins and SP Robertson",

year = "2018",

doi = "10.1016/j.ajhg.2018.04.008",

language = "Undefined/Unknown",

volume = "102",

pages = "1115--1125",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "6",

}

Cameron-Christie, SR, Wells, CF, Simon, MEH, Wessels, M, Tang, CZN, Wei, WH, Takei, R, Aarts-Tesselaar, C, Sandaradura, S, Sillence, DO, Cordier, MP, Veenstra-Knol, HE, Cassina, M, Ludkig, K, Trevisson, E, Bahlo, M, Markie, DM, Jenkins, ZA & Robertson, SP 2018, 'Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3', American Journal of Human Genetics, vol. 102, no. 6, pp. 1115-1125. https://doi.org/10.1016/j.ajhg.2018.04.008

TY - JOUR

T1 - Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

AU - Cameron-Christie, SR

AU - Wells, CF

AU - Simon, MEH

AU - Wessels, Marja

AU - Tang, CZN

AU - Wei, WH

AU - Takei, R

AU - Aarts-Tesselaar, C

AU - Sandaradura, S

AU - Sillence, DO

AU - Cordier, MP

AU - Veenstra-Knol, HE

AU - Cassina, M

AU - Ludkig, K

AU - Trevisson, E

AU - Bahlo, M

AU - Markie, DM

AU - Jenkins, ZA

AU - Robertson, SP

PY - 2018

Y1 - 2018

U2 - 10.1016/j.ajhg.2018.04.008

DO - 10.1016/j.ajhg.2018.04.008

M3 - Article

SN - 0002-9297

VL - 102

SP - 1115

EP - 1125

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -