SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation-Reference-Cited by-同舟云学术

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SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation

Published:2016-01-21 Issue:6 Volume:61 Page:561-564
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Min Ko Jung,Jung Soyoon,Seo Jieun,Ho Shin Choong,Il Cheong Hae,Choi Murim,Kim Ok-Hwa,Cho Tae-Joon

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2015174.pdf

Reference14 articles.

1. Shalev, S. A., Spiegel, R. & Borochowitz, Z. U. A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families. Eur. J. Med. Genet. 55, 256–264 (2012).

2. Sarig, O., Nahum, S., Rapaport, D., Ishida-Yamamoto, A., Fuchs-Telem, D., Qiaoli, L. et al. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am. J. Hum. Genet. 91, 337–342 (2012).

3. Shaheen, R., Faqeih, E., Shamseldin, H. E., Noche, R. R., Sunker, A., Alshammari, M. J. et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am. J. Hum. Genet. 91, 330–336 (2012).

4. Chen, J. H., Segni, M., Payne, F., Huang-Doran, I., Sleigh, A., Adams, C. et al. Truncation of POC1A associated with short stature and extreme insulin resistance. J. Mol. Endocrinol. 55, 147–158 (2015).

5. Koparir, A., Karatas, O. F., Yuceturk, B., Yuksel, B., Bayrak, A. O., Gerdan, O. F. et al. Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. Hum. Mol. Genet. 24, 5378–5387 (2015).

Cited by 12 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. Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome;Reviews in Endocrine and Metabolic Disorders;2024-07-17

2. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling;European Journal of Endocrinology;2024-01-20

3. SOFT syndrome with Kohlschutter–Tonz syndrome;Journal of Postgraduate Medicine;2023-09-07

4. Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps;European Journal of Endocrinology;2022-05-01

5. Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report;BMC Medical Genomics;2021-08-21

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