Concepedia

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

Emma M.M. Burkitt Wright, Rahat Perveen, Peter Clayton, Catherine M. Hall, Teresa Costa, Annie Procter, Carol A. Giblin, Dian Donnai, Graeme C. Black

Clinical Dysmorphology · 2009 · 34 citations · 12 references

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Abstract

Burkitt Wright, Emma M.M.; Perveen, Rahat; Clayton, Peter E.; Hall, Catherine M.; Costa, Teresa; Procter, Annie M.; Giblin, Carol A.; Donnai, Dian; Black, Graeme C. Author Information

References

12

Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13

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A comparison of the properties of <i>Sox-3</i> with <i>Sry</i> and two related genes, <i>Sox-1</i> and <i>Sox-2</i>

Jérôme Collignon, Shanthini Sockanathan, Adam Hacker et al. · Development · 1996 · 497 citations

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Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse

Michael P. Wajnrajch, Joseph M. Gertner, Madeleine D. Harbison et al. · Nature Genetics · 1996 · 321 citations

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Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia

Paul Q. Thomas · Human Molecular Genetics · 2001 · 319 citations

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Over- and Underdosage of SOX3 Is Associated with Infundibular Hypoplasia and Hypopituitarism

Kathryn Woods‐Townsend, Maria Cundall, James Turton et al. · The American Journal of Human Genetics · 2005 · 297 citations · Full text

, , +3