Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.

Geraghty, Robert M; Orr, Sarah; Olinger, Eric; Neatu, Ruxandra; Barroso-Gil, Miguel; Mabillard, Holly; Consortium, Genomics England Research; Wilson, Ian; Sayer, John A

Geraghty, Robert M; Orr, Sarah; Olinger, Eric; Neatu, Ruxandra; Barroso-Gil, Miguel; Mabillard, Holly; Consortium, Genomics England Research; Wilson, Ian; Sayer, John A.

Afiliação

Geraghty RM; Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Freeman Road, Newcastle Upon Tyne, NE7 7DN UK.
Orr S; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.
Olinger E; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.
Neatu R; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.
Barroso-Gil M; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.
Mabillard H; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.
Consortium GER; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.
Wilson I; Renal Services, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Freeman Road, Newcastle Upon Tyne, NE7 7DN UK.
Sayer JA; Faculty of Medical Sciences, Translational and Clinical Institute, Newcastle University, Central Parkway, Newcastle Upon Tyne, NE1 3BZ UK.

J Rare Dis (Berlin) ; 2(1): 9, 2023.

Article em En | MEDLINE | ID: mdl-37288276

Palavras-chave

ACTG2; MYH11; Prune Belly syndrome; Visceral myopathy; Whole genome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: J Rare Dis (Berlin) Ano de publicação: 2023 Tipo de documento: Article

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