Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant

Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant

Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) ide...

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Bibliographic Details
Main Authors: Megumi Leung, Meredith Sanchez-Castillo, Newell Belnap, Marcus Naymik, Anna Bonfitto, Jennifer Sloan, Katie Hassett, Wayne M. Jepsen, Aravind Sankaramoorthy, Tracy Murray Stewart, Jackson R. Foley, Sampathkumar Rangasamy, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Rare
Subjects:
Snyder-Robinson syndrome
Spermine synthase
Spermidine
Spermine
Osteoporosis
Seizures
Online Access:http://www.sciencedirect.com/science/article/pii/S2950008723000170
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