SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) | Zendy

Dominic Lenz | Zendy; Patricia McClean | Zendy; Aydan Kansu | Zendy; Penelope E. Bonnen | Zendy; Giusy Ranucci | Zendy; Christian Thiel | Zendy; Beate K. Straub | Zendy; Inga Harting | Zendy; Bader Alhaddad | Zendy; Bianca Dimitrov | Zendy; Urania Kotzaeridou | Zendy; Daniel Wenning | Zendy; Raffaele Iorio | Zendy; Ryan Himes | Zendy; Zarife Kuloğlu | Zendy; Emma L. Blakely | Zendy; Robert W. Taylor | Zendy; Thomas Meitinger | Zendy; Stefan Kölker | Zendy; Holger Prokisch | Zendy; Georg F. Hoffmann | Zendy; Tobias B. Haack | Zendy; Christian Staufner | Zendy

Open Access

SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Author(s) -

Dominic Lenz,

Patricia McClean,

Aydan Kansu,

Penelope E. Bonnen,

Giusy Ranucci,

Christian Thiel,

Beate K. Straub,

Inga Harting,

Bader Alhaddad,

Bianca Dimitrov,

Urania Kotzaeridou,

Daniel Wenning,

Raffaele Iorio,

Ryan Himes,

Zarife Kuloğlu,

Emma L. Blakely,

Robert W. Taylor,

Thomas Meitinger,

Stefan Kölker,

Holger Prokisch,

Georg F. Hoffmann,

Tobias B. Haack,

Christian Staufner

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2017.260

Subject(s) - cholestasis , medicine , progressive familial intrahepatic cholestasis , phenotype , gastroenterology , pathology , biology , liver transplantation , genetics , gene , transplantation

Biallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype.

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