Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.

Abu-El-Haija, Aya; McGowan, Caroline; Vanderveen, Deborah; Bodamer, Olaf

Abu-El-Haija, Aya; McGowan, Caroline; Vanderveen, Deborah; Bodamer, Olaf.

Affiliation

Abu-El-Haija A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
McGowan C; Department of Medical Oncology, Dana Farber Cancer Institute, Boston, MA, USA.
Vanderveen D; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Bodamer O; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.

Am J Med Genet A ; 185(2): 528-533, 2021 02.

Article de En | MEDLINE | ID: mdl-33179441

Sujet(s)
Mots clés

WFS1 variants; WFS1-related disorders; Wolfram syndrome; cataracts; early onset diabetes; hearing loss

Texte intégral

Ajouter à My VHL

Imprimer

XML

PubMed Links

Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Syndrome de Wolfram / Diabète / Surdité neurosensorielle / Protéines membranaires Type d'étude: Etiology_studies / Risk_factors_studies Limites: Adult / Female / Humans Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2021 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: États-Unis d'Amérique

Texte intégral

Ajouter à My VHL

Imprimer

XML

PubMed Links

Recherche sur Google