B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum.

Coetzer, Kimberly Christine; Dieckerhoff, Jost; Wollnik, Bernd; Moosa, Shahida

Coetzer, Kimberly Christine; Dieckerhoff, Jost; Wollnik, Bernd; Moosa, Shahida.

Afiliação

Coetzer KC; Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa.
Dieckerhoff J; Kinderarztpraxis Dieckerhoff, Rosenheim, Germany.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa; Medical Genetics, Tygerberg Hospital, Cape Town, South Africa. Electronic address: shahidamoosa@sun.ac.za.

Eur J Med Genet ; 66(10): 104829, 2023 Oct.

Article em En | MEDLINE | ID: mdl-37657630

Palavras-chave

Autosomal recessive; B3GALT6; Connective tissue; Linkeropathy; Skeletal dysplasia

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: África do Sul

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google