Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1-Reference-Cited by-同舟云学术

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Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Published:2022-05-24 Issue:9 Volume:30 Page:998-999
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

El Khattabi Laila,Guimiot Fabien,Delahaye-Duriez Andrée^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01110-0.pdf

Reference2 articles.

1. El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, et al. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. Eur J Hum Genet. 2015;23:1010–8.

2. Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, et al. EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder. Clin Genet. 2021;100:396–404.

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