All Relations between Photophobia and srebf1
| Publication | Sentence | Publish Date | Extraction Date | Species |
|---|---|---|---|---|
| Bingjie Zheng, Zhihong Zhang, Xing Zhou, Ming Li, Qiufang Qia. A mutation in the SREBF1 gene resulting in autosomal-dominant ichthyosis Follicularis, Atrichia, and photophobia syndrome. The Journal of dermatology. 2024-10-01. PMID:39350432. | a mutation in the srebf1 gene resulting in autosomal-dominant ichthyosis follicularis, atrichia, and photophobia syndrome. | 2024-10-01 | 2024-10-03 | Not clear |
| Huijun Wang, Yuan Wu, Jennifer A Bassetti, Zhaoyang Wang, Vikash S Oza, Sneha A Rangu, Bobbi McGivern, Sha Peng, Lina Liang, Shimiao Huang, Zhuoqing Gong, Zigang Xu, Zhimiao Li. A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts. The British journal of dermatology. 2024-07-15. PMID:39005171. | loss-of-function variants in srebf1 are responsible for autosomal-dominant ichthyosis follicularis, alopecia, and photophobia syndrome, emphasizing the significance of lipid homeostasis in skin keratinization. | 2024-07-15 | 2024-07-18 | Not clear |