Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy ; volume:14 ; number:1 ; day:11 ; month:9 ; year:2013 ; pages:1-5 ; date:12.2013
BMC medical genetics ; 14, Heft 1 (11.9.2013), 1-5, 12.2013

Creator: Ardissone, Anna

Contributor: Bragato, Cinzia
Caffi, Lorella
Blasevich, Flavia
Maestrini, Sabrina
Bianchi, Maria Luisa
Morandi, Lucia
Moroni, Isabella
Mora, Marina
SpringerLink (Online service)

DOI: 10.1186/1471-2350-14-89

URN: urn:nbn:de:1111-2016071516519

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:56 AM CEST

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Associated

Ardissone, Anna
Bragato, Cinzia
Caffi, Lorella
Blasevich, Flavia
Maestrini, Sabrina
Bianchi, Maria Luisa
Morandi, Lucia
Moroni, Isabella
Mora, Marina
SpringerLink (Online service)

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Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

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Other Objects (12)

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Reduced gut microbiota diversity in patients with congenital generalized lipodystrophy

Anosognosia in Very Mild Alzheimer’s Disease but Not in Mild Cognitive Impairment

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