On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure

Genet Med. 2019 Jul;21(7):1663-1664. doi: 10.1038/s41436-018-0389-6. Epub 2018 Dec 10.

Authors

Carlotta Spagnoli¹, Daniele Frattini², Grazia Gabriella Salerno¹, Carlo Fusco^{1

3}

Affiliations

¹ Department of Pediatrics, Child Neurology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
² Department of Pediatrics, Child Neurology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy. daniele.frattini@ausl.re.it.
³ Pediatric Neurophysiology Laboratory, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

PMID: 30531813
DOI: 10.1038/s41436-018-0389-6

No abstract available

Publication types

Letter
Comment

MeSH terms

Adaptor Proteins, Vesicular Transport
Cholestasis*
DNA-Binding Proteins
Humans
Liver Failure, Acute*
Respiratory Insufficiency*
Transcription Factors
gamma-Glutamyltransferase

Substances

Adaptor Proteins, Vesicular Transport
DNA-Binding Proteins
SCYL1 protein, human
Transcription Factors
gamma-Glutamyltransferase