A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

Macchiaroli, Annamaria; Kelberman, Daniel; Auriemma, Renata Simona; Drury, Suzanne; Islam, Lily; Giangiobbe, Sara; Ironi, Gabriele; Lench, Nicholas; Sowden, Jane C; Colao, Annamaria; Pivonello, Rosario; Cavallo, Luciano; Gasperi, Maurizio; Faienza, Maria Felicia

Macchiaroli, Annamaria; Kelberman, Daniel; Auriemma, Renata Simona; Drury, Suzanne; Islam, Lily; Giangiobbe, Sara; Ironi, Gabriele; Lench, Nicholas; Sowden, Jane C; Colao, Annamaria; Pivonello, Rosario; Cavallo, Luciano; Gasperi, Maurizio; Faienza, Maria Felicia.

Afiliação

Macchiaroli A; Paediatric Endocrinology Unit, "Cardarelli" Hospital, Campobasso, Italy.
Kelberman D; Ulverscroft Vision Research Group, Developmental Biology Unit, UCL Institute of Child Health, London, UK.
Auriemma RS; Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Napoli, Italy.
Drury S; NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
Islam L; Ulverscroft Vision Research Group, Developmental Biology Unit, UCL Institute of Child Health, London, UK.
Giangiobbe S; Paediatric Endocrinology Unit, "Cardarelli" Hospital, Campobasso, Italy.
Ironi G; Paediatric Endocrinology Unit, "Cardarelli" Hospital, Campobasso, Italy.
Lench N; NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.
Sowden JC; Ulverscroft Vision Research Group, Developmental Biology Unit, UCL Institute of Child Health, London, UK.
Colao A; Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Napoli, Italy.
Pivonello R; Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Napoli, Italy.
Cavallo L; Department of Biomedical Sciences and Human Oncology, Section of Pediatrics, University "Aldo Moro", Bari, Italy.
Gasperi M; Department of Medicine and Health Sciences, Section of Endocrinology, University of Molise, Campobasso, Italy.
Faienza MF; Department of Biomedical Sciences and Human Oncology, Section of Pediatrics, University "Aldo Moro", Bari, Italy. Electronic address: mariafelicia.faienza@uniba.it.

Gene ; 534(2): 282-5, 2014 Jan 25.

Article em En | MEDLINE | ID: mdl-24211324

Assuntos

Anoftalmia/genética; Anormalidades Congênitas/genética; Hormônio do Crescimento Humano/deficiência; Hormônio do Crescimento Humano/genética; Hipogonadismo/genética; Fatores de Transcrição SOXB1/genética; Deleção de Sequência; Adolescente; Heterozigoto; Humanos; Hipogonadismo/etiologia; Masculino

Palavras-chave

ACTH; FSH; GH; GHD; GHRH; GnRH; Growth hormone deficiency; HMG; Hypogonadotropic hypogonadism; Hypopituitarism; LH; MRI; SOX2 mutations; SRY-related high mobility group; TRH; TSH; adrenocorticotropic hormone; follicle-stimulating hormone; gonadotropin releasing hormone; growth hormone; growth hormone deficiency; growth hormone releasing hormone; luteotropin hormone; magnetic resonance imaging; thyroid-stimulating hormone; thyrotropin releasing hormone

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Anoftalmia / Deleção de Sequência / Hormônio do Crescimento Humano / Fatores de Transcrição SOXB1 / Hipogonadismo Tipo de estudo: Etiology_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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