Mutation in theTBCEGene Is Associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome Featuring Pituitary Hormone Deficiencies and Hypoplasia of the Anterior Pituitary and the Corpus Callosum-Reference-Cited by-同舟云学术

Mutation in theTBCEGene Is Associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome Featuring Pituitary Hormone Deficiencies and Hypoplasia of the Anterior Pituitary and the Corpus Callosum

Published:2009-08-01 Issue:8 Volume:94 Page:2686-2691
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Padidela Raja¹,Kelberman Dan¹,Press Martin²,Al-Khawari M.³,Hindmarsh Peter C.¹,Dattani Mehul T.¹

Affiliation:

1. Developmental Endocrinology Research Group (R.P., D.K., P.C.H., M.T.D.), University College London Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, United Kingdom

2. Department of Endocrinology (M.P.), Royal Free Hampstead National Health Service Trust, London NW3 2QG, United Kingdom

3. Department of Paediatric Endocrinology (M.A.-K.), Al Amiri Hospital, Safat 13041, Kuwait

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/94/8/2686/9063266/jcem2686.pdf

Reference22 articles.

1. Short stature, mental retardation, and hypoparathyroidism: a new syndrome.;Richardson;Arch Dis Child,1990

2. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.;Sanjad;Arch Dis Child,1991

3. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.;Parvari;Nat Genet,2002

4. Review: postchaperonin tubulin folding cofactors and their role in microtubule dynamics.;Lopez-Fanarraga;J Struct Biol,2001

5. Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies.;Marsden;Am J Med Genet,1994

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Expanding TBCE-related phenotype—novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia;Journal of Applied Genetics;2024-08-17

2. Sanjad-Sakati Syndrome Revealed by Hypocalcemic Convulsions;Cureus;2024-08-08

3. Primary hypoparathyroidism or non-surgical hypoparathyroidism;The Rose and Mackay Textbook of Autoimmune Diseases;2024

4. Genetic Disorders of Calcium and Phosphorus Metabolism Related with Parathyroid Glands;Parathyroid Glands - New Aspects;2023-03-15

5. Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome;The Journal of Clinical Endocrinology & Metabolism;2023-03-14