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Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.

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Title: Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.
Authors: Matheny-Rabun C; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA., Holloway L; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA., Corning K; Greenwood Genetic Center, Columbia Office, Columbia, SC, USA., Louie R; Diagnostic Laboratories, Greenwood Genetic Center, Greenwood, SC, USA., Lu P; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA., Smol T; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, Lille, France., Boussion S; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, Lille, France., Woods E; Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Williams C; Royal Wolverhampton Hospital NHS Trust, Wolverhampton, UK., Steet R; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA., Friez M; Diagnostic Laboratories, Greenwood Genetic Center, Greenwood, SC, USA., Arno G; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA., Stevenson R; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA., Flanagan-Steet H; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA. heatherfs@ggc.org.
Source: NPJ genomic medicine [NPJ Genom Med] 2026 Apr 24; Vol. 11 (1). Date of Electronic Publication: 2026 Apr 24.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.
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  Data: <searchLink fieldCode="AU" term="%22Matheny-Rabun+C%22">Matheny-Rabun C</searchLink>; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Holloway+L%22">Holloway L</searchLink>; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Corning+K%22">Corning K</searchLink>; Greenwood Genetic Center, Columbia Office, Columbia, SC, USA.<br /><searchLink fieldCode="AU" term="%22Louie+R%22">Louie R</searchLink>; Diagnostic Laboratories, Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Lu+P%22">Lu P</searchLink>; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Smol+T%22">Smol T</searchLink>; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, Lille, France.<br /><searchLink fieldCode="AU" term="%22Boussion+S%22">Boussion S</searchLink>; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, Lille, France.<br /><searchLink fieldCode="AU" term="%22Woods+E%22">Woods E</searchLink>; Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Johnson+D%22">Johnson D</searchLink>; Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Williams+C%22">Williams C</searchLink>; Royal Wolverhampton Hospital NHS Trust, Wolverhampton, UK.<br /><searchLink fieldCode="AU" term="%22Steet+R%22">Steet R</searchLink>; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Friez+M%22">Friez M</searchLink>; Diagnostic Laboratories, Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Arno+G%22">Arno G</searchLink>; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Stevenson+R%22">Stevenson R</searchLink>; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Flanagan-Steet+H%22">Flanagan-Steet H</searchLink>; JC Self Research Institute Greenwood Genetic Center, Greenwood, SC, USA. heatherfs@ggc.org.
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  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2026 Apr 24; Vol. 11 (1). <i>Date of Electronic Publication: </i>2026 Apr 24.
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