Johanson-Blizzard's Syndrome with a Novel <i>UBR1</i> Mutation.

Demir, Damla; Kendir Demirkol, Yasemin; Gerenli, Nelgin; Aktas Karabay, Ezgi

Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation.

Demir, Damla; Kendir Demirkol, Yasemin; Gerenli, Nelgin; Aktas Karabay, Ezgi.

Afiliação

Demir D; Department of Dermatology, Ümraniye Training and Research Hospital, University of Health Science, Istanbul, Turkey.
Kendir Demirkol Y; Department of Pediatrics Genetics, Ümraniye Training and Research Hospital, University of Health Science, Istanbul, Turkey.
Gerenli N; Department of Pediatrics Gastroenterology, Ümraniye Training and Research Hospital, University of Health Science, Istanbul, Turkey.
Aktas Karabay E; Department of Dermatology, Faculty of Medicine, Bahçesehir University, Istanbul, Turkey.

J Pediatr Genet ; 11(2): 147-150, 2022 Jun.

Article em En | MEDLINE | ID: mdl-35769968

Palavras-chave

JohansonBlizzard's syndrome; UBR1 gene; aplasia cutis; facial dysmorphia; novel variants; pancreatic insufficiency

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article