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Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2.

Clinical dysmorphology - 1 Jan 2021

Touma Boulos Marianne, Moukarzel Adib, Yammine Tony, Salem Nabiha, Souaid Mirna, Farra Chantal

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Share to Alleles
Share to Amino Acid Substitution
Share to Diabetes Mellitus, Type 2
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ribosomal Protein S6 Kinases, 90-kDa

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Identifiers

PMID: 32858545
DOI: 10.1097/MCD.0000000000000343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2.PMID 32858545Read ↗

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A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.Semantic proximity Read ↗

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