Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy

Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus − reduced body weight and bone abnormalities (osteoporosis, fractures, kyphoscol...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Mouskou, Stella, Katerelos, Adamantios, Doulgeraki, Artemis, Leka-Emiri, Sofia, Manolakos, Emmanouil, Papoulidis, Ioannis, Ververi, Athina, Vartzelis, Georgios, Korona, Anastasia, Mastroyanni, Sotiria, Voudris, Konstantinos
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2021
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8215975/
https://ncbi.nlm.nih.gov/pubmed/34177437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000514122
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