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Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

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Title: Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.
Authors: Maity S; Department of Cellular and Integrative Physiology, Long School of Medicine, UT Health San Antonio, San Antonio, TX, United States., Montion M; Department of Medicine, Ross University School of Medicine, Bridgetown, Barbados., Boothe D; Department of Pathology, St. Matthew's University, Georgetown, Cayman Islands., Attarpour M; Department of Medicine, Avalon University School of Medicine, Willemstad, Curaçao., Mageto I; Department of Medicine, University of Medicine and Health Sciences, Basseterre, Saint Kitts and Nevis., Agarwal S; Department of Medicine, Ross University School of Medicine, Bridgetown, Barbados., Patel R; Department of Medicine, Ross University School of Medicine, Bridgetown, Barbados., Lark C; Department of Medicine, Ross University School of Medicine, Bridgetown, Barbados., Cardona Valentin N; Department of Medicine, University of Medicine and Health Sciences, Basseterre, Saint Kitts and Nevis., Quinones-Budel E; Department of Medicine, University of Medicine and Health Sciences, Basseterre, Saint Kitts and Nevis., Shireen H; Department of Medicine, St. George's University School of Medicine, True Blue, Grenada., Gadad BS; Department of Medical Education, UTRGV School of Medicine, Edinburg, TX, United States., Anand N; Department of Medical Education, UTRGV School of Medicine, Edinburg, TX, United States., Goyal A; Department of Community Medicine, RIMT Medical College and Hospital, Punjab, India., Mendoza JE; PrimeWest Consortium, San Dimas Community Hospital, Graduate Medical Education, San Dimas, CA, United States., Nauhria S; Cayman Islands Red Cross, Georgetown, Cayman Islands., Nauhria S; Civil Service College, Cayman Islands Government, Georgetown, Cayman Islands.
Source: Frontiers in genetics [Front Genet] 2026 Jan 12; Vol. 16, pp. 1715229. Date of Electronic Publication: 2026 Jan 12 (Print Publication: 2025).
Publication Type: Journal Article; Systematic Review
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.
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  Data: <searchLink fieldCode="AU" term="%22Maity+S%22">Maity S</searchLink>; Department of Cellular and Integrative Physiology, Long School of Medicine, UT Health San Antonio, San Antonio, TX, United States.<br /><searchLink fieldCode="AU" term="%22Montion+M%22">Montion M</searchLink>; Department of Medicine, Ross University School of Medicine, Bridgetown, Barbados.<br /><searchLink fieldCode="AU" term="%22Boothe+D%22">Boothe D</searchLink>; Department of Pathology, St. Matthew's University, Georgetown, Cayman Islands.<br /><searchLink fieldCode="AU" term="%22Attarpour+M%22">Attarpour M</searchLink>; Department of Medicine, Avalon University School of Medicine, Willemstad, Curaçao.<br /><searchLink fieldCode="AU" term="%22Mageto+I%22">Mageto I</searchLink>; Department of Medicine, University of Medicine and Health Sciences, Basseterre, Saint Kitts and Nevis.<br /><searchLink fieldCode="AU" term="%22Agarwal+S%22">Agarwal S</searchLink>; Department of Medicine, Ross University School of Medicine, Bridgetown, Barbados.<br /><searchLink fieldCode="AU" term="%22Patel+R%22">Patel R</searchLink>; Department of Medicine, Ross University School of Medicine, Bridgetown, Barbados.<br /><searchLink fieldCode="AU" term="%22Lark+C%22">Lark C</searchLink>; Department of Medicine, Ross University School of Medicine, Bridgetown, Barbados.<br /><searchLink fieldCode="AU" term="%22Cardona+Valentin+N%22">Cardona Valentin N</searchLink>; Department of Medicine, University of Medicine and Health Sciences, Basseterre, Saint Kitts and Nevis.<br /><searchLink fieldCode="AU" term="%22Quinones-Budel+E%22">Quinones-Budel E</searchLink>; Department of Medicine, University of Medicine and Health Sciences, Basseterre, Saint Kitts and Nevis.<br /><searchLink fieldCode="AU" term="%22Shireen+H%22">Shireen H</searchLink>; Department of Medicine, St. George's University School of Medicine, True Blue, Grenada.<br /><searchLink fieldCode="AU" term="%22Gadad+BS%22">Gadad BS</searchLink>; Department of Medical Education, UTRGV School of Medicine, Edinburg, TX, United States.<br /><searchLink fieldCode="AU" term="%22Anand+N%22">Anand N</searchLink>; Department of Medical Education, UTRGV School of Medicine, Edinburg, TX, United States.<br /><searchLink fieldCode="AU" term="%22Goyal+A%22">Goyal A</searchLink>; Department of Community Medicine, RIMT Medical College and Hospital, Punjab, India.<br /><searchLink fieldCode="AU" term="%22Mendoza+JE%22">Mendoza JE</searchLink>; PrimeWest Consortium, San Dimas Community Hospital, Graduate Medical Education, San Dimas, CA, United States.<br /><searchLink fieldCode="AU" term="%22Nauhria+S%22">Nauhria S</searchLink>; Cayman Islands Red Cross, Georgetown, Cayman Islands.<br /><searchLink fieldCode="AU" term="%22Nauhria+S%22">Nauhria S</searchLink>; Civil Service College, Cayman Islands Government, Georgetown, Cayman Islands.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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