Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.

Storr, H L; Prasad, R; Temple, I K; Metherell, L A; Savage, M O; Walker, J M

Storr, H L; Prasad, R; Temple, I K; Metherell, L A; Savage, M O; Walker, J M.

Afiliação

Storr HL; Centre for Endocrinology, John Vane Science Centre, William Harvey Research Institute (WHRI), Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK. h.l.storr@qmul.ac.uk.
Prasad R; Centre for Endocrinology, John Vane Science Centre, William Harvey Research Institute (WHRI), Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Temple IK; Faculty of Medicine, University of Southampton, Southampton, UK.
Metherell LA; Centre for Endocrinology, John Vane Science Centre, William Harvey Research Institute (WHRI), Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Savage MO; Centre for Endocrinology, John Vane Science Centre, William Harvey Research Institute (WHRI), Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, EC1M 6BQ, UK.
Walker JM; Department of Paediatric Endocrinology, Portsmouth Hospitals National Health Service Trust, Portsmouth, UK.

J Endocrinol Invest ; 38(4): 407-12, 2015 Apr.

Article em En | MEDLINE | ID: mdl-25352235

Assuntos

Proteínas de Transporte/genética; Glicoproteínas/genética; Transtornos do Crescimento; Recém-Nascido Pequeno para a Idade Gestacional; Síndrome de Laron; Adulto; Criança; Pré-Escolar; Feminino; Retardo do Crescimento Fetal/genética; Retardo do Crescimento Fetal/metabolismo; Retardo do Crescimento Fetal/patologia; Transtornos do Crescimento/genética; Transtornos do Crescimento/metabolismo; Transtornos do Crescimento/patologia; Humanos; Síndrome de Laron/genética; Síndrome de Laron/metabolismo; Síndrome de Laron/patologia; Masculino; Núcleo Familiar; Fenótipo

Palavras-chave

Acid-labile subunit (ALS); Growth hormone insensitivity (GHI); IGFALS mutation; Short stature; Small for gestational age (SGA)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Recém-Nascido Pequeno para a Idade Gestacional / Glicoproteínas / Proteínas de Transporte / Síndrome de Laron / Transtornos do Crescimento Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Endocrinol Invest Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Reino Unido

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