Intellectual developmental disorder with short stature
Definition:
References:
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[1]. Arjan P M de Brouwer, et al. Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. Am J Hum Genet. 2018 Dec 6;103(6):1045-1052. [Content Brief]
[2]. Muhammad Ansar, et al. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature. Am J Hum Genet. 2019 Nov 7;105(5):907-920. [Content Brief]
[3]. Muhammad Ansar, et al. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature. Hum Mol Genet. 2019 Mar 15;28(6):972-979. [Content Brief]
[4]. Musharraf Jelani, et al. A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities. Brain. 2019 May 1;142(5):1242-1254. [Content Brief]
[5]. Sofia I H Godinho, et al. The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period. Science. 2007 May 11;316(5826):897-900. [Content Brief]
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