Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus

Walker-Warburg Syndrome is a genetically heterogeneous disease with autosomal recessive inheritance characterized by brain and eye deformities, profound mental retardation, congenital muscular dystrophy, and early death. This case study demonstrates a mutation on chromosome 12q14 in the TMEM5 gene (...

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Bibliografiske detaljer

Principais autores:	Fawzya Aref, MD, Amin Shaaban, MD, Abouelhassan Ahmed, MD, Maram Gubari, MBBS, Jood Hassan, MBBS, Mussaed Alharbi, MBBS, Kholod Alsubhi, MBBS, Kareem Alsalhi, MBBS, Shama Albalawi, MBBS, Mohamad Ali, MBBS, Hiba Ali, MBBS, Najla Filfilan, MBBS, Elaf Shmailah, MBBS, Attallah Ahmed
Format:	Artigo
Sprog:	Inglês
Udgivet:	Elsevier 2024-11-01
Serier:	Radiology Case Reports
Fag:	Cobblestone lissencephaly Brain malformations Eye abnormalities Congenital muscular dystrophy Walker-Warburg syndrome Tmem5 gene
Online adgang:	http://www.sciencedirect.com/science/article/pii/S1930043324007362
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