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

Publication date

2021-10

Authors

Boot, Erik
Linders, Cathelijne C.
Tromp, Sterre H
Van den Boogaard, Marie José H.ISNI 0000000393336883
van Eeghen, Agnies M

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Abstract

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Letter

Citation

Boot, E, Linders, C C, Tromp, S H, van den Boogaard, M-J & van Eeghen, A M 2021, 'Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome', American Journal of Medical Genetics. Part A, vol. 185, no. 10, pp. 3167-3169. https://doi.org/10.1002/ajmg.a.62380