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Article

Absence of SIX3 mutations in patients with congenital hypopituitarism.

American journal of medical genetics. Part A - 1 Dec 2009

Gaston-Massuet Carles, Kelberman Daniel, Dattani Mehul, Martinez-Barbera Juan Pedro

Abstract excerpt

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Topics

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Share to Chromosomes, Human, Pair 2
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19921650
DOI: 10.1002/ajmg.a.33103

Genes

SIX3

Provenance

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Related research

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Absence of SIX3 mutations in patients with congenital hypopituitarism.PMID 19921650Read ↗

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Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.Semantic proximity Read ↗

A child with branchio-oto-renal spectrum disorder carrying an SIX1 variant.Semantic proximity Read ↗

Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.Semantic proximity Read ↗

[Hypopituitarism of genetic etiologies].Semantic proximity Read ↗

A Novel p.Tyr129His Variant in SIX1 Leads to Dominant, Delayed-onset Hearing Loss with Possible Association with Congenital Anosmia.Semantic proximity Read ↗

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss-of-Function Missense Variant in NPR3.Semantic proximity Read ↗

Homozygous truncation of SIX6 causes complex microphthalmia in humans.Semantic proximity Read ↗

Allelic Variants in Established Hypopituitarism Genes Expands Our Knowledge of Phenotypic SpectrumSemantic proximity Read ↗

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