Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
about
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis PigmentosaCytokine-Like Factor 1, an Essential Facilitator of Cardiotrophin-Like Cytokine:Ciliary Neurotrophic Factor Receptor α Signaling and sorLA-Mediated Turnover.Mutations in CRLF1 cause familial achalasia.Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report.Crisponi/CISS1 syndrome: A case series.
P2860
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
description
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name
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
@en
type
label
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
@en
prefLabel
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
@en
P2093
P2860
P50
P356
P1433
P1476
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome
@en
P2093
Adnan Y Manzur
Andreas Zankl
Benjamin Kamien
Carmen Herrero Roche
Ciğdem Seher Kasapkara
Elisabetta Chiodin
Enrica Paderi
Eray Esra Onal
Esra Kiliç
Francesca Chiappe
P2860
P304
P356
10.1002/HUMU.22522
P577
2014-03-06T00:00:00Z