Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome

Erik Boot; Cathelijne C Linders; Sterre H Tromp; Marie-José van den Boogaard; Agnies M van Eeghen

doi:10.1002/ajmg.a.62380

Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome

Erik Boot
, Cathelijne C Linders
, Sterre H Tromp
, Marie-José van den Boogaard
, Agnies M van Eeghen

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

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Original language	English
Pages (from-to)	3167-3169
Number of pages	3
Journal	American Journal of Medical Genetics. Part A
Volume	185
Issue number	10
Early online date	4 Jun 2021
DOIs	https://doi.org/10.1002/ajmg.a.62380
Publication status	Published - Oct 2021

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10.1002/ajmg.a.62380Licence: CC BY

American J of Med Genetics Pt A - 2021 - Boot - Possible underreporting of pathogenic variants in RAI1 causing SmithFinal published version, 411 KBLicence: CC BY

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@article{f6b1155041294cdeac0501df0333247f,

title = "Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome",

author = "Erik Boot and Linders, \{Cathelijne C\} and Tromp, \{Sterre H\} and \{van den Boogaard\}, Marie-Jos{\'e} and \{van Eeghen\}, \{Agnies M\}",

note = "Funding Information: The authors thank Stichting Smith Magenis Syndroom Nederland, the Dutch SMS support organization, for their support of our work. This research was financially supported in part by the Dutch National Institutes of Health (ZonMw), Grant/Award Number: \#845006105. Funding Information: The authors thank Stichting Smith Magenis Syndroom Nederland, the Dutch SMS support organization, for their support of our work. This research was financially supported in part by the Dutch National Institutes of Health (ZonMw), Grant/Award Number: \#845006105. ",

year = "2021",

month = oct,

doi = "10.1002/ajmg.a.62380",

language = "English",

volume = "185",

pages = "3167--3169",

journal = "American Journal of Medical Genetics. Part A",

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publisher = "John Wiley \& Sons Inc.",

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}

TY - JOUR

T1 - Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome

AU - Boot, Erik

AU - Linders, Cathelijne C

AU - Tromp, Sterre H

AU - van den Boogaard, Marie-José

AU - van Eeghen, Agnies M

N1 - Funding Information: The authors thank Stichting Smith Magenis Syndroom Nederland, the Dutch SMS support organization, for their support of our work. This research was financially supported in part by the Dutch National Institutes of Health (ZonMw), Grant/Award Number: #845006105. Funding Information: The authors thank Stichting Smith Magenis Syndroom Nederland, the Dutch SMS support organization, for their support of our work. This research was financially supported in part by the Dutch National Institutes of Health (ZonMw), Grant/Award Number: #845006105.

PY - 2021/10

Y1 - 2021/10

UR - https://www.scopus.com/pages/publications/85107222349

U2 - 10.1002/ajmg.a.62380

DO - 10.1002/ajmg.a.62380

M3 - Comment/Letter to the editor

C2 - 34089220

SN - 1552-4825

VL - 185

SP - 3167

EP - 3169

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 10

ER -

Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome

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