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. |
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| 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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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-026-00573-0 |
