Documentos de Agarwal A.K. | REDI

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Filtros aplicados

Palabras Claves: "Mandibuloacral dysplasia"

Subtipo de publicación

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Clinical Genetics(1)

Human Mutation(1)

Área temáticas

Enfermedades(2)

Anatomía humana, citología, histología(1)

Genética y evolución(1)

Ginecología, obstetricia, pediatría, geriatría(1)

Área de conocimiento

Año de Publicación

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Palabras Claves

Aging disorder(1)

Hutchinson-Gilford progeria syndrome(1)

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): Insights into the pathophysiology of HGPS

Abstract: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a

Palabras claves:

Aging disorder, HGPS, Hutchinson-Gilford progeria syndrome, Lamin A, LMNA, Mandibuloacral dysplasia, Nuclear lamina, ZMPSTE24

Agarwal A.K., Brune T., Denecke J., Feldhaus T., Kranz C., Marquardt T., Richard J. Auchus, Robenek H.

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings

Abstract: Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome, characterized by ma

Palabras claves:

Lamin A, Lipodystrophy, Mandibuloacral dysplasia, Progeroid syndrome, ZMPSTE24

Agarwal A.K., Akagi M., Garg A., Kato-Nishimura K., Miyoshi Y., Mohri I., Mushiake S., Nakajima S., Namba N., Ozono K., Richard J. Auchus, Shima M., Taniike M., Yamagata M.