Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

Freund, Ofek; Elsana, Baker; Agam, Nadav; Jean, Matan M; Safran, Amit; Poleg, Tomer; Roguin, Nir; Gradstein, Libe; Tsumi, Erez; Birk, Ohad S

Freund, Ofek; Elsana, Baker; Agam, Nadav; Jean, Matan M; Safran, Amit; Poleg, Tomer; Roguin, Nir; Gradstein, Libe; Tsumi, Erez; Birk, Ohad S.

Afiliação

Freund O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.
Elsana B; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Agam N; Department of Ophthalmology, Soroka Medical Center, Beer-Sheva, Israel.
Jean MM; Clalit Health Services, Affiliated to the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Safran A; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.
Poleg T; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Roguin N; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.
Gradstein L; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Tsumi E; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Beer-Sheva, Israel.
Birk OS; The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Am J Med Genet A ; 191(11): 2768-2774, 2023 Nov.

Article em En | MEDLINE | ID: mdl-37615310

Palavras-chave

ALSG; FGF10; aplasia of lacrimal and salivary glands; fibroblast growth factor 10; ophthalmology; splice site mutation

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Israel

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google