Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, hydrocephalus, cobblestone lissencephaly, and retinal dysplasia. The main genes involved are: POMT1, POMT2, POMGNT1, FKTN, LARGE1, and FKRP.

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations / Silvia Zago , Evelina Silvestri , Tiziana Arcangeli , Marina Calisesi , Chiara Romeo , Giulia Parmeggiani , Elena Parrini , Valentina Cetica 6, Renzo Guerrini , Andrea Palicelli , Maria Paola Bonasoni. - In: FETAL AND PEDIATRIC PATHOLOGY. - ISSN 1551-3815. - ELETTRONICO. - 42 (2):(2023), pp. 334-341. [10.1080/15513815.2022.2116620]

Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations

Renzo Guerrini;
2023

Abstract

Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, hydrocephalus, cobblestone lissencephaly, and retinal dysplasia. The main genes involved are: POMT1, POMT2, POMGNT1, FKTN, LARGE1, and FKRP.
2023
42 (2)
334
341
Silvia Zago , Evelina Silvestri , Tiziana Arcangeli , Marina Calisesi , Chiara Romeo , Giulia Parmeggiani , Elena Parrini , Valentina Cetica 6, Renzo Guerrini , Andrea Palicelli , Maria Paola Bonasoni
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1303943
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