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Bi-allelic pathogenic variants in NR2E3 may be associated with a subtle enhanced S-cone syndrome phenotypeNR2E3基因的双等位基因致病性变异可能与轻微增强的S-锥细胞综合征表型相关
Huther, Alexander; Sherman, Caroline L.; Sumaroka, Alexander; O'Neil, Erin C.; Roman, Alejandro J.; Kim, Rebecca; Weber, Mariejel L.; Garafalo, Alexandra V.; Cideciyan, Artur V.; Aleman, Tomas S..png)
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收藏 Phenotype-integrated reinterpretation of laboratory-reported ABCA4 gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy表型整合对实验室报告的ABCA4基因测序结果的重新解读提高了黑人/非白人患者以及晚发型Stargardt黄斑变性的分子诊断率Wang, Dorothy T.; Antonio-Aguirre, Bani; Pan, Annabelle; Ruggeri, Maria Ludovica; Mehta, Setu P.; Smith, Christy H.; Guthrie, Kelsey S.; Applegate, Carolyn; Doyle, Jefferson J.; Singh, Mandeep S. 分享 收藏 Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context关于综合征性无眼畸形/小眼畸形的遗传学见解：产前背景下的新分子发现El-Dessouky, Sara H.; Sharaf-Eldin, Wessam E.; Aboulghar, Mona M.; Aref, Haissam; Senousy, Sameh M.; Maher, Mohamed A.; Harms, Frederike L.; Matsa, Lova S.; Ezz Elarab, Ahmed; Ateya, Mohamed I.; Mobarak, Mostafa H.; Zolfokar, Dalia S.; Abdelmohsen, Asmaa E.; Abdel-Aziz, Nahla N.; Issa, Mahmoud Y.; Ahmed, Adel H.; Soliman, Samar H.; Elmakkawy, Gehad A.; Elhady, Ghada M.; Eid, Maha M.; Zaki, Maha S.; Schorderet, Daniel; Kutsche, Kerstin; Abdalla, Ebtesam M. 分享 收藏 
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