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Article

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency

15 Apr 2010

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20396904
DOI: 10.1007/s00439-010-0820-9

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Related research

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A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiencyPMID 20396904Read ↗

Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.Semantic proximity Read ↗

OTX2 Syndromes.Semantic proximity Read ↗

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.Semantic proximity Read ↗

OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.Semantic proximity Read ↗

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.Semantic proximity Read ↗

A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerveSemantic proximity Read ↗

Mandibular dysostosis without microphthalmia caused by OTX2 deletion.Semantic proximity Read ↗

OTX2 mutations contribute to the otocephaly-dysgnathia complexSemantic proximity Read ↗

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.Semantic proximity Read ↗

The phenotypic spectrum associated with OTX2 mutations in humans.Semantic proximity Read ↗

Molecular dissection reveals decreased activity and not dominant negative effect in human OTX2 mutants.Semantic proximity Read ↗

A de novo variant in OTX2 in a lamb with otocephaly.Semantic proximity Read ↗

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