MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.

Garg, Nisha; Bademci, Guney; Foster, Joseph; Siklar, Zeynep; Berberoglu, Merih; Tekin, Mustafa

Garg, Nisha; Bademci, Guney; Foster, Joseph; Siklar, Zeynep; Berberoglu, Merih; Tekin, Mustafa.

Afiliação

Garg N; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
Bademci G; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
Foster J; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.
Siklar Z; Division of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
Berberoglu M; Division of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
Tekin M; Dr John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL. Electronic address: mtekin@med.miami.edu.

J Pediatr ; 167(2): 489-91, 2015 Aug.

Article em En | MEDLINE | ID: mdl-26003998

Assuntos

Acantose Nigricans/genética; Hiperinsulinismo Congênito/genética; Fácies; Transtornos do Crescimento/genética; Deficiência Intelectual/genética; Proteínas Proto-Oncogênicas c-akt/genética; Feminino; Humanos; Lactente; Síndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fácies / Hiperinsulinismo Congênito / Proteínas Proto-Oncogênicas c-akt / Acantose Nigricans / Transtornos do Crescimento / Deficiência Intelectual Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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