Concepedia

Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

Deborah P. Merke, Wuyan Chen, Rachel Morissette, Xu Zhi, Carol Van Ryzin, Vandana Sachdev, Hwaida Hannoush, Sujata M. Shanbhag, Ana Acevedo, Miki Nishitani,

The Journal of Clinical Endocrinology & Metabolism · 2013 · 72 citations · 33 references

DOIFull text

Open access

Abstract

Clinical evaluation for connective tissue dysplasia should be routinely performed in CAH patients, especially those harboring a CYP21A2 deletion.

References

33

Recommendations for evaluation of the severity of native valvular regurgitation with two-dimensional and doppler echocardiography

William A. Zoghbi, Maurice Enriquez‐Sarano, Elyse Foster et al. · Journal of the American Society of Echocardiography · 2003 · 4K citations · Full text

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Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

Peter Beighton, Anne De Paepe, Beat Steinmann et al. · American Journal of Medical Genetics · 1998 · 1.7K citations

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Phyllis Speiser, Ricardo Azziz, Laurence S. Baskin et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 1.5K citations · Full text

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Phyllis Speiser, Wiebke Arlt, Richard J. Auchus et al. · The Journal of Clinical Endocrinology & Metabolism · 2018 · 1.1K citations · Full text

The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS).

Rodney Grahame, H. A. Bird, A Child · PubMed · 2000 · 744 citations

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