Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.

Gupta, Swati; Fahiminiya, Somayyeh; Wang, Tracy; Dempsey Nunez, Laura; Rosenblatt, David S; Gibson, William T; Gilfix, Brian; Bergeron, John J M; Jerome-Majewska, Loydie A.

Afiliação

Gupta S; Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada;
Fahiminiya S; Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada;
Wang T; Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada;
Dempsey Nunez L; Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada;
Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada;; Department of Pediatrics, McGill University, Montreal, Quebec H4A 3J1, Canada;
Gibson WT; Department of Medical Genetics, Child and Family Research Institute, Vancouver, British Columbia V6H 3V4, Canada;
Gilfix B; Department of Medicine, McGill University, Montreal, Quebec H4A 3J1, Canada;
Bergeron JJ; Department of Medicine, McGill University, Montreal, Quebec H4A 3J1, Canada;
Jerome-Majewska LA; Department of Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada;; Department of Pediatrics, McGill University, Montreal, Quebec H4A 3J1, Canada;; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A 0C7, Canada.

Cold Spring Harb Mol Case Stud ; 2(3): a000737, 2016 May.

Article em En | MEDLINE | ID: mdl-27148587

Palavras-chave

childhood-onset truncal obesity; downslanted palpebral fissures; hypertelorism; macrocephaly at birth; moderate global developmental delay; proportionate tall stature

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article