Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency

In conclusion, LLS is a rare genetic disorder mostly characterized by a wide range of developmental and neurological symptoms. Early diagnosis would allow to start of care programs, clinical follow up, prospective studies and appropriate genetic counseling, to promote clinical and social improvement to have profound lifelong benefits for patients and their families. Further research is needed to better understand the underlying mechanisms of the syndrome related to SOX5 haploinsufficiency.PMID:37702321 | DOI:10.1111/cge.14423

Source: Clinical Genetics - September 13, 2023 Category: Genetics & Stem Cells Authors: Jair Tenorio-Castano Ángela Sánchez-Algaba Gómez M ónica Coronado Pilar Rodr íguez-Martín Alejandro Parra Patricia Pascual Mario Cazalla Natalia Gallego Pedro Arias Aixa V Morales Juli án Nevado Pablo Lapunzina Source Type: research