Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma ; volume:11 ; number:1 ; day:2 ; month:8 ; year:2016 ; pages:1-12 ; date:12.2016
Orphanet journal of rare diseases ; 11, Heft 1 (2.8.2016), 1-12, 12.2016

Creator: Mauri, Lucia

Contributor: Uebe, Steffen
Sticht, Heinrich
Vossmerbaeumer, Urs
Weisschuh, Nicole
Manfredini, Emanuela
Maselli, Edoardo
Patrosso, Mariacristina
Weinreb, Robert N.
Penco, Silvana
Reis, André
Pasutto, Francesca
SpringerLink (Online service)

DOI: 10.1186/s13023-016-0495-y

URN: urn:nbn:de:1111-2016080312459

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:50 AM CEST

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Associated

Mauri, Lucia
Uebe, Steffen
Sticht, Heinrich
Vossmerbaeumer, Urs
Weisschuh, Nicole
Manfredini, Emanuela
Maselli, Edoardo
Patrosso, Mariacristina
Weinreb, Robert N.
Penco, Silvana
Reis, André
Pasutto, Francesca
SpringerLink (Online service)

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Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

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Other Objects (12)

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease

Expanding spectrum of “spitzoid” lesions: a small series of 4 cases with MAP2K1 mutations

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Expanding the phenotypic spectrum of mutations in LRP2: a novel candidate gene of non-syndromic familial comitant strabismus

The expanding spectrum of rare monogenic autoinflammatory diseases

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Expanding spectrum of “spitzoid” lesions: a small series of 4 cases with MAP2K1 mutations

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Expanding the phenotypic spectrum of mutations in LRP2: a novel candidate gene of non-syndromic familial comitant strabismus

The expanding spectrum of rare monogenic autoinflammatory diseases

Expanding the molecular spectrum of combined pituitary hormone deficiency

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Expanding spectrum of “spitzoid” lesions: a small series of 4 cases with MAP2K1 mutations

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes

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Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

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