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[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].

Revista de neurologia - 16 Jul 2015

Quintela Inés, Barros-Angueira Francisco, Pérez-Gay Laura, Castro-Gago Manuel, Carracedo Ángel, Eirís-Puñal Jesús

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PMID: 26156445

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[Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks].PMID 26156445Read ↗

Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.Semantic proximity Read ↗

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RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.Semantic proximity Read ↗

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.Semantic proximity Read ↗

The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.Semantic proximity Read ↗

Stimulus-induced drop episodes in Coffin-Lowry syndrome.Semantic proximity Read ↗

[Coffin-Lowry syndrome].Semantic proximity Read ↗

Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them.Semantic proximity Read ↗

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[19-year old Turkish female patient with recurrent abdominal pains and fever. Molecular genetics investigation yields a definitive diagnosis ].Semantic proximity Read ↗

Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins.Semantic proximity Read ↗

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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