A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.

Merjaneh, Lina; Parks, John S; Muir, Andrew B; Fadoju, Doris

Merjaneh, Lina; Parks, John S; Muir, Andrew B; Fadoju, Doris.

Afiliación

Merjaneh L; Division of Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Parks JS; Division of Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Muir AB; Division of Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Fadoju D; Division of Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.

Int J Pediatr Endocrinol ; 2014(1): 16, 2014.

Article en En | MEDLINE | ID: mdl-25177352

Palabras clave

Conical epiphyses; Growth hormone; Hip dysplasia; Missense mutation; Nonsense mutation; Sparse eyebrows; TRPS1; Trichorhinophalangeal syndrome type I

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Int J Pediatr Endocrinol Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido

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