Hipoplasia dérmica focal (síndrome de Goltz): Amplia variabilidad fenotípica

J. C. Acosta; A. Motta; J. C. Prieto

Hipoplasia dérmica focal (síndrome de Goltz): Amplia variabilidad fenotípica

J. C. Acosta, A. Motta, J. C. Prieto

Instituto de Genética Humana

Producción: Contribución a una revista › Artículo › revisión exhaustiva

2 Citas (Scopus)

Resumen

The focal dermal hypoplasia (MIM # 305600), also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.

Título traducido de la contribución	Focal dermal hypoplasia (Goltz's syndrome): Wide phenotypic variability
Idioma original	Español
Páginas (desde-hasta)	224-229
Número de páginas	6
Publicación	Revista Argentina de Dermatologia
Volumen	90
N.º	4
Estado	Publicada - oct. 2009

Palabras clave

Focal dermal hypoplasia
Papillomatosis
Skin atrophy
X-linked dominant

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abstract = "The focal dermal hypoplasia (MIM # 305600), also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.",

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AU - Motta, A.

AU - Prieto, J. C.

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KW - Papillomatosis

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KW - X-linked dominant

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Hipoplasia dérmica focal (síndrome de Goltz): Amplia variabilidad fenotípica

Resumen

Palabras clave

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