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Article

Novel variant related to SATB2-associated syndrome.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Dec 2024

Benyahya Nada, Amllal Nada, Elalaoui Siham Chafai, El Alloussi Mustapha, Sefiani Abdelaziz, Lyahyai Jaber

Abstract excerpt

BACKGROUND: SATB2-associated syndrome (SAS) also known as Glass syndrome is characterized by/intellectual disability and/or developmental delay coupled with absent or limited speech development. Other abnormalities can be noticed including craniofacial anomalies such as palatal and dental anomalies, behavioural problems and dysmorphic features. It is associated with pathogenic monoallelic variants of the SATB2...

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PMID: 39300047
DOI: 10.1002/jdn.10379

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