CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants-Reference-Cited by-同舟云学术

CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants

Published:2022-03 Issue:3 Volume:65 Page:104440
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Nunes Natália,Zamariolli Malú,Dantas Anelisa Gollo,Cola Paula,de Agostinho Júnior Francisco,Piazzon Flavia Balbo,Meloni Vera Ayres,Melaragno Maria Isabel^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference12 articles.

1. New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation;Ben-Salem;J. Dermatol.,2015

2. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions;Farwell;Genet. Med.,2015

3. CEDNIK syndrome results from loss-of-function mutations in SNAP29;Fuchs-Telem;Br. J. Dermatol.,2011

4. CEDNIK: phenotypic and molecular characterization of an additional patient and review of the literature;Hsu;Child Neurol. Open,2017

5. Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome;Keser;Commun. Biol.,2019

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